| 1 | Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans | 9.3 | 3 | Citations (PDF) |
| 2 | The 2024 update of IUIS phenotypic classification of human inborn errors of immunity 2025, 1, | | 122 | Citations (PDF) |
| 3 | Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee 2025, 1, | | 244 | Citations (PDF) |
| 4 | Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity 2025, 1, | | 2 | Citations (PDF) |
| 5 | Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency | 2.7 | 5 | Citations (PDF) |
| 6 | Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency | 10.6 | 10 | Citations (PDF) |
| 7 | Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases | 9.3 | 13 | Citations (PDF) |
| 8 | Déficits immunitaires combinés sévères : de la clinique aux explorations immunologique et génétique | 0.0 | 0 | Citations (PDF) |
| 9 | DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity | 4.8 | 9 | Citations (PDF) |
| 10 | Impact of Graft Function on Health Status and Quality of Life in Very Long-Term Survivors Who Received an HSCT for Inborn Errors of Immunity, a Prospective Study of the CEREDIH | 2.0 | 4 | Citations (PDF) |
| 11 | La dirofilariose humaine, diffusion d’une maladie émergente : premier cas autochtone normand ? | 0.0 | 0 | Citations (PDF) |
| 12 | Inborn errors of immunity underlying defective T-cell memory | 2.3 | 1 | Citations (PDF) |
| 13 | Identification de variants prédits pathogènes de gènes de la réponse antimicrobienne dans l’hidradénite suppurée isolée ou syndromique | 0.0 | 0 | Citations (PDF) |
| 14 | Abatacept is useful in autoimmune cytopenia with immunopathologic manifestations caused by CTLA-4 defectsBlood, 2022, 139, 300-304 | 4.8 | 17 | Citations (PDF) |
| 15 | Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott–Aldrich syndrome | 33.0 | 117 | Citations (PDF) |
| 16 | Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence | 3.1 | 12 | Citations (PDF) |
| 17 | Bayesian Modeling Immune Reconstitution Apply to CD34+ Selected Stem Cell Transplantation for Severe Combined Immunodeficiency | 1.7 | 1 | Citations (PDF) |
| 18 | Gain-of-function
IKZF1
variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation | 13.4 | 79 | Citations (PDF) |
| 19 | BCG Moreau Polish Substrain Infections in Patients With Inborn Errors of Immunity: 40 Years of Experience in the Department of Immunology, Children's Memorial Health Institute, Warsaw | 1.7 | 7 | Citations (PDF) |
| 20 | Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee | 3.1 | 1,037 | Citations (PDF) |
| 21 | Revue de la littérature sur les maladies auto-inflammatoires associées aux mutations du gène RIPK1 | 0.1 | 3 | Citations (PDF) |
| 22 | DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity | 6.1 | 29 | Citations (PDF) |
| 23 | Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing | 6.1 | 27 | Citations (PDF) |
| 24 | Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation | 3.1 | 15 | Citations (PDF) |
| 25 | Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations | 3.1 | 13 | Citations (PDF) |
| 26 | Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency | 10.6 | 35 | Citations (PDF) |
| 27 | The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee | 3.1 | 189 | Citations (PDF) |
| 28 | A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings | 3.1 | 0 | Citations (PDF) |
| 29 | Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia | 3.1 | 15 | Citations (PDF) |
| 30 | Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance | 9.3 | 59 | Citations (PDF) |
| 31 | Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency | 4.9 | 14 | Citations (PDF) |
| 32 | Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling | 1.7 | 12 | Citations (PDF) |
| 33 | Alternative pathways for the development of lymphoid structures in humans | 7.5 | 16 | Citations (PDF) |
| 34 | Investigation of primary immune deficiency after severe bacterial infection in children: A population-based study in western France | 1.3 | 6 | Citations (PDF) |
| 35 | A Complex Infectious, Inflammatory, and Autoimmune Phenotype Reveals 22q11.2 Deletion Syndrome in an Adult | 3.1 | 1 | Citations (PDF) |
| 36 | NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood | 2.5 | 19 | Citations (PDF) |
| 37 | A very uncommon cause of acute kidney injury in infancy | 5.3 | 0 | Citations (PDF) |
| 38 | Early-onset autoimmunity associated with SOCS1 haploinsufficiency | 13.7 | 144 | Citations (PDF) |
| 39 | Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection | 9.3 | 57 | Citations (PDF) |
| 40 | Topoisomerase 2β mutation impairs early B-cell developmentBlood, 2020, 135, 1497-1501 | 4.8 | 25 | Citations (PDF) |
| 41 | Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee | 3.1 | 1,011 | Citations (PDF) |
| 42 | IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation | 3.1 | 24 | Citations (PDF) |
| 43 | Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification | 3.1 | 625 | Citations (PDF) |
| 44 | Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation | 5.4 | 47 | Citations (PDF) |
| 45 | Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses | 4.9 | 37 | Citations (PDF) |
| 46 | Title is missing! 2020 | | 0 | Citations (PDF) |
| 47 | PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects | 6.1 | 61 | Citations (PDF) |
| 48 | A deep intronic splice mutation of
STAT3
underlies hyper IgE syndrome by negative dominance | 7.5 | 27 | Citations (PDF) |
| 49 | A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency | 3.1 | 8 | Citations (PDF) |
| 50 | Life-threatening pulmonary interstitial lung disease complicating pediatric nonhumoral immunodeficiencies | 3.3 | 1 | Citations (PDF) |
| 51 | Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency | 3.3 | 38 | Citations (PDF) |
| 52 | Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies | 4.9 | 58 | Citations (PDF) |
| 53 | Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells | 9.3 | 86 | Citations (PDF) |
| 54 | Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report | 2.6 | 4 | Citations (PDF) |
| 55 | Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature | 2.2 | 37 | Citations (PDF) |
| 56 | Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immunodeficiencies and Inherited Disorders in Children | 1.6 | 103 | Citations (PDF) |
| 57 | Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes | 4.8 | 150 | Citations (PDF) |
| 58 | Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results | 2.6 | 57 | Citations (PDF) |
| 59 | Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations | 2.6 | 11 | Citations (PDF) |
| 60 | Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency | 5.0 | 15 | Citations (PDF) |
| 61 | Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency | 4.9 | 12 | Citations (PDF) |
| 62 | Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency | 3.3 | 89 | Citations (PDF) |
| 63 | Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency | 6.1 | 37 | Citations (PDF) |
| 64 | BCG Moreau Vaccine Safety Profile and NK Cells—Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency | 3.1 | 15 | Citations (PDF) |
| 65 | Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry | 6.1 | 25 | Citations (PDF) |
| 66 | Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients | 5.4 | 31 | Citations (PDF) |
| 67 | Loss of ARHGEF1 causes a human primary antibody deficiency | 10.6 | 48 | Citations (PDF) |
| 68 | Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state | 2.9 | 80 | Citations (PDF) |
| 69 | ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency | 6.1 | 83 | Citations (PDF) |
| 70 | Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations | 2.6 | 75 | Citations (PDF) |
| 71 | Les interféronopathies de type I. Mise au point et revue de la littérature | 0.1 | 11 | Citations (PDF) |
| 72 | Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency | 6.1 | 28 | Citations (PDF) |
| 73 | Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency | 6.1 | 112 | Citations (PDF) |
| 74 | Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds | 2.3 | 16 | Citations (PDF) |
| 75 | Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome | 1.0 | 19 | Citations (PDF) |
| 76 | Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study | 1.3 | 90 | Citations (PDF) |
| 77 | Comprehensive molecular diagnosis of Epstein–Barr virus-associated lymphoproliferative diseases using next-generation sequencing | 1.5 | 8 | Citations (PDF) |
| 78 | A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4–Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma | 1.5 | 12 | Citations (PDF) |
| 79 | Long-term follow-up of an activated PI3K-δ syndrome 2 in patient presenting with an agammaglobulinemia phenotype | 1.1 | 2 | Citations (PDF) |
| 80 | Next generation phenotyping using narrative reports in a rare disease clinical data warehouse | 3.1 | 33 | Citations (PDF) |
| 81 | Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation | 4.9 | 14 | Citations (PDF) |
| 82 | A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency | 3.1 | 47 | Citations (PDF) |
| 83 | Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency | 23.5 | 115 | Citations (PDF) |
| 84 | Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated
RPSA
exons | 7.5 | 38 | Citations (PDF) |
| 85 | A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity | 13.4 | 165 | Citations (PDF) |
| 86 | Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies | 3.1 | 27 | Citations (PDF) |
| 87 | Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency | 2.0 | 22 | Citations (PDF) |
| 88 | Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency | 10.6 | 172 | Citations (PDF) |
| 89 | Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts | 7.5 | 58 | Citations (PDF) |
| 90 | Human Adaptive Immunity Rescues an Inborn Error of Innate ImmunityCell, 2017, 168, 789-800.e10 | 33.6 | 85 | Citations (PDF) |
| 91 | Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies | 6.1 | 304 | Citations (PDF) |
| 92 | Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti | 6.1 | 16 | Citations (PDF) |
| 93 | Risk Factors in Children Older Than 5 Years With Pneumococcal Meningitis | 1.1 | 19 | Citations (PDF) |
| 94 | Self-reactive VH4-34–expressing IgG B cells recognize commensal bacteria | 9.3 | 94 | Citations (PDF) |
| 95 | Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes | 9.3 | 285 | Citations (PDF) |
| 96 | CD21 deficiency in 2 siblings with recurrent respiratory infections and hypogammaglobulinemia | 3.3 | 17 | Citations (PDF) |
| 97 | Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency | 3.1 | 68 | Citations (PDF) |
| 98 | Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies | 3.7 | 52 | Citations (PDF) |
| 99 | Different Immunological Pathways Underlie the Immune Response to Pneumococcal Polysaccharides | 3.1 | 2 | Citations (PDF) |
| 100 | Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection | 9.3 | 152 | Citations (PDF) |
| 101 | Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutationsBlood, 2017, 130, 1456-1467 | 4.8 | 120 | Citations (PDF) |
| 102 | Successful pediatric ECMO in a rare case of septic shock due to a community-acquired Legionella infection | 3.1 | 6 | Citations (PDF) |
| 103 | Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study | 6.1 | 476 | Citations (PDF) |
| 104 | A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis | 6.1 | 76 | Citations (PDF) |
| 105 | Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease | 6.1 | 31 | Citations (PDF) |
| 106 | Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study | 6.1 | 35 | Citations (PDF) |
| 107 | Type I interferon-mediated autoinflammation due to DNase II deficiency | 13.7 | 222 | Citations (PDF) |
| 108 | IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature | 1.7 | 31 | Citations (PDF) |
| 109 | International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity | 3.1 | 809 | Citations (PDF) |
| 110 | The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies | 3.1 | 525 | Citations (PDF) |
| 111 | Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency | 10.6 | 144 | Citations (PDF) |
| 112 | Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections | 10.6 | 157 | Citations (PDF) |
| 113 | Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets | 9.3 | 94 | Citations (PDF) |
| 114 | Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey | 3.1 | 64 | Citations (PDF) |
| 115 | Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease | 6.1 | 10 | Citations (PDF) |
| 116 | Successful Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide in a Severe Combined Immune Deficiency Patient: a First Report | 3.1 | 12 | Citations (PDF) |
| 117 | Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotypeBlood, 2016, 127, 3154-3164 | 4.8 | 567 | Citations (PDF) |
| 118 | Exome and genome sequencing for inborn errors of immunity | 6.1 | 224 | Citations (PDF) |
| 119 | X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene | 6.1 | 78 | Citations (PDF) |
| 120 | Dual T cell– and B cell–intrinsic deficiency in humans with biallelic
RLTPR
mutations | 9.3 | 139 | Citations (PDF) |
| 121 | Evidence of innate lymphoid cell redundancy in humans | 23.5 | 293 | Citations (PDF) |
| 122 | Déficits immunitaires héréditaires de l’immunité innée et infections | 1.3 | 4 | Citations (PDF) |
| 123 | Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transplantation | 6.1 | 28 | Citations (PDF) |
| 124 | Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage | 7.5 | 67 | Citations (PDF) |
| 125 | Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study | 6.1 | 281 | Citations (PDF) |
| 126 | Activated PI3-kinase δ Syndrome: Long-term Follow-up after Cord Blood Transplantation | 3.1 | 2 | Citations (PDF) |
| 127 | Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases | 6.1 | 135 | Citations (PDF) |
| 128 | OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH | 3.1 | 19 | Citations (PDF) |
| 129 | Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1Blood, 2015, 125, 3563-3569 | 4.8 | 72 | Citations (PDF) |
| 130 | Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia | 9.3 | 294 | Citations (PDF) |
| 131 | Value of allohaemagglutinins in the diagnosis of a polysaccharide antibody deficiency | 3.3 | 15 | Citations (PDF) |
| 132 | DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients | 3.1 | 333 | Citations (PDF) |
| 133 | Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both | 6.1 | 235 | Citations (PDF) |
| 134 | Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies | 6.1 | 210 | Citations (PDF) |
| 135 | An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation | 6.1 | 76 | Citations (PDF) |
| 136 | Impairment of immunity to
Candida
and
Mycobacterium
in humans with bi-allelic
RORC
mutations | 36.3 | 414 | Citations (PDF) |
| 137 | SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling | 2.6 | 42 | Citations (PDF) |
| 138 | Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis | 9.3 | 184 | Citations (PDF) |
| 139 | Long-term consequences of Hodgkin lymphoma therapy on T-cell lymphopoiesis | 6.1 | 4 | Citations (PDF) |
| 140 | Outcomes Following Gene Therapy in Patients With Severe Wiskott-Aldrich Syndrome | 16.5 | 355 | Citations (PDF) |
| 141 | PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity | 6.1 | 107 | Citations (PDF) |
| 142 | Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 | 3.1 | 660 | Citations (PDF) |
| 143 | The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies | 3.1 | 213 | Citations (PDF) |
| 144 | Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network | 25.2 | 185 | Citations (PDF) |
| 145 | Early-onset hypogammaglobulinemia: A survey of 44 patients | 6.1 | 6 | Citations (PDF) |
| 146 | Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome | 13.7 | 202 | Citations (PDF) |
| 147 | Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome | 9.3 | 351 | Citations (PDF) |
| 148 | A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency | 6.1 | 55 | Citations (PDF) |
| 149 | A neuropathological study of cerebrovascular abnormalities in a signal transducer and activator of transcription 3–deficient patient | 6.1 | 7 | Citations (PDF) |
| 150 | Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection | 3.7 | 158 | Citations (PDF) |
| 151 | CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study | 6.1 | 63 | Citations (PDF) |
| 152 | Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA | 3.1 | 14 | Citations (PDF) |
| 153 | Peculiar hyper-IgM syndrome. Case report / Sindrom hiper-IgM atipic. Prezentare de caz | 0.2 | 0 | Citations (PDF) |
| 154 | Imported African Histoplasmosis in an Immunocompetent Patient 40 Years after Staying in a Disease-Endemic Area | 0.0 | 16 | Citations (PDF) |
| 155 | Contribution of high‐throughput DNA sequencing to the study of primary immunodeficiencies | 3.1 | 65 | Citations (PDF) |
| 156 | Human plasma cells express granzyme B | 3.1 | 31 | Citations (PDF) |
| 157 | Péricardite purulente et infiltration colique à Salmonella enteritidis compliquée d’invagination intestinale aiguë dans un cas de déficit en IL-12Rβ1 | 1.3 | 5 | Citations (PDF) |
| 158 | Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency | 6.1 | 79 | Citations (PDF) |
| 159 | Addressing diagnostic challenges in primary immunodeficiencies: Laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses | 5.4 | 23 | Citations (PDF) |
| 160 | Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency | 4.9 | 476 | Citations (PDF) |
| 161 | Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry | 3.1 | 59 | Citations (PDF) |
| 162 | Trends of Pneumococcal Meningitis in Children After Introduction of the 13-Valent Pneumococcal Conjugate Vaccine in France | 1.1 | 56 | Citations (PDF) |
| 163 | ICON: The Early Diagnosis of Congenital Immunodeficiencies | 3.1 | 40 | Citations (PDF) |
| 164 | Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency | 5.2 | 102 | Citations (PDF) |
| 165 | Invasive Pneumococcal Disease in Children Can Reveal a Primary Immunodeficiency | 5.2 | 90 | Citations (PDF) |
| 166 | CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation | 37.9 | 216 | Citations (PDF) |
| 167 | Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers | 6.1 | 115 | Citations (PDF) |
| 168 | A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4 | 23.5 | 81 | Citations (PDF) |
| 169 | Stratégies d’exploration de l’allo-immunisation plaquettaire pour la prévention et la prise en charge des inefficacités transfusionnelles plaquettaires | 0.2 | 8 | Citations (PDF) |
| 170 | Prevention of Infections During Primary Immunodeficiency | 5.2 | 96 | Citations (PDF) |
| 171 | Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology | 3.1 | 30 | Citations (PDF) |
| 172 | A Modified γ-Retrovirus Vector for X-Linked Severe Combined Immunodeficiency | 34.5 | 401 | Citations (PDF) |
| 173 | Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome | 6.1 | 114 | Citations (PDF) |
| 174 | Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy | 0.8 | 7 | Citations (PDF) |
| 175 | Interleukin 1/Toll-like Receptor-induced Autophosphorylation Activates Interleukin 1 Receptor-associated Kinase 4 and Controls Cytokine Induction in a Cell Type-specific Manner | 2.2 | 61 | Citations (PDF) |
| 176 | SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCIDBlood, 2014, 123, 281-289 | 4.8 | 172 | Citations (PDF) |
| 177 | Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patientsBlood, 2014, 124, 1597-1609 | 4.8 | 56 | Citations (PDF) |
| 178 | IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigensBlood, 2014, 124, 3561-3571 | 4.8 | 66 | Citations (PDF) |
| 179 | B‐cell subpopulations in children: National reference values | 2.4 | 75 | Citations (PDF) |
| 180 | The Genetic and Molecular Basis of Severe Combined Immunodeficiency | 2.3 | 3 | Citations (PDF) |
| 181 | A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy | 3.1 | 64 | Citations (PDF) |
| 182 | Antibioprophylaxie chez les enfants immunodéprimés | 1.3 | 4 | Citations (PDF) |
| 183 | Persistence of natural killer cells with expansion of a hypofunctional CD56−CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3–deficient severe combined immunodeficiency | 6.1 | 18 | Citations (PDF) |
| 184 | Prédisposition génétique aux maladies infectieuses chez l’homme | 0.1 | 1 | Citations (PDF) |
| 185 | An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis | 22.6 | 291 | Citations (PDF) |
| 186 | Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease | 2.9 | 62 | Citations (PDF) |
| 187 | Syndrome de susceptibilité mendélienne aux infections mycobactériennes : à propos d’un cas d’infection disséminée à Mycobacterium avium | 1.3 | 7 | Citations (PDF) |
| 188 | Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation | 6.1 | 146 | Citations (PDF) |
| 189 | Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8+ T-cell memory formation and function | 6.1 | 68 | Citations (PDF) |
| 190 | Deep Dermatophytosis and Inherited CARD9 Deficiency | 34.5 | 412 | Citations (PDF) |
| 191 | Quand rechercher un déficit immunitaire héréditaire chez l’enfant ? | 1.3 | 6 | Citations (PDF) |
| 192 | A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiencyBlood, 2013, 122, 3713-3722 | 4.8 | 130 | Citations (PDF) |
| 193 | IL-21 signalling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablastsBlood, 2013, 122, 3940-3950 | 4.8 | 151 | Citations (PDF) |
| 194 | Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation | 6.1 | 60 | Citations (PDF) |
| 195 | Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound HeterozygousATRMutations | 4.5 | 51 | Citations (PDF) |
| 196 | Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency | 6.1 | 24 | Citations (PDF) |
| 197 | Pachymeningitis after meningococcal infection | 62.1 | 4 | Citations (PDF) |
| 198 | Severe cutaneous bacillus Calmette–Guérin infection in immunocompromised children: the relevance of skin biopsy | 1.1 | 26 | Citations (PDF) |
| 199 | Syndromes d’activation lymphohistiocytaire constitutionnels | 0.1 | 0 | Citations (PDF) |
| 200 | Primary immunodeficiencies underlying fungal infections | 2.3 | 217 | Citations (PDF) |
| 201 | Long-Term Remissions of Severe Pemphigus After Rituximab Therapy Are Associated with Prolonged Failure of Desmoglein B Cell Response | 12.5 | 233 | Citations (PDF) |
| 202 | Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood | 9.3 | 141 | Citations (PDF) |
| 203 | Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability | 2.9 | 185 | Citations (PDF) |
| 204 | Variant of X-Linked Chronic Granulomatous Disease Revealed by a SevereBurkholderia cepaciaInvasive Infection in an Infant | 1.1 | 3 | Citations (PDF) |
| 205 | Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients | 2.0 | 60 | Citations (PDF) |
| 206 | Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells | 9.3 | 184 | Citations (PDF) |
| 207 | Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndromeBlood, 2013, 121, 1510-1516 | 4.8 | 89 | Citations (PDF) |
| 208 | Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAPBlood, 2013, 121, 614-623 | 4.8 | 108 | Citations (PDF) |
| 209 | Inherited IL-12p40 Deficiency | 1.2 | 164 | Citations (PDF) |
| 210 | Le contrôle génétique des maladies infectieuses : des lois de Mendel au séquençage de l’exome | 0.1 | 1 | Citations (PDF) |
| 211 | Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis | 2.3 | 320 | Citations (PDF) |
| 212 | Frequent and Widespread Vascular Abnormalities in Human Signal Transducer and Activator of Transcription 3 Deficiency | 3.8 | 67 | Citations (PDF) |
| 213 | Multicentric Castleman Disease in an HHV8-Infected Child Born to Consanguineous Parents With Systematic Review | 4.5 | 32 | Citations (PDF) |
| 214 | Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome | 1.2 | 324 | Citations (PDF) |
| 215 | MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survivalBlood, 2012, 119, 3458-3468 | 4.8 | 272 | Citations (PDF) |
| 216 | Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency | 23.5 | 478 | Citations (PDF) |
| 217 | IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4–, MyD88-, and TIRAP- but not UNC-93B–deficient patientsBlood, 2012, 120, 4992-5001 | 4.8 | 98 | Citations (PDF) |
| 218 | Experimental and natural infections in MyD88‐ and IRAK‐4‐deficient mice and humans | 3.1 | 188 | Citations (PDF) |
| 219 | Macrophages induce differentiation of plasma cells through CXCL10/IP-10 | 9.3 | 91 | Citations (PDF) |
| 220 | Immunity to infection in IL‐17‐deficient mice and humans | 3.1 | 179 | Citations (PDF) |
| 221 | Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia | 6.1 | 50 | Citations (PDF) |
| 222 | Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency | 6.1 | 108 | Citations (PDF) |
| 223 | Temporal interferon-gamma release response to Mycobacterium kansasii infection in an anorexia nervosa patient | 1.7 | 8 | Citations (PDF) |
| 224 | Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections | 2.3 | 142 | Citations (PDF) |
| 225 | EVER2 Deficiency is Associated with Mild T-cell Abnormalities | 3.1 | 42 | Citations (PDF) |
| 226 | Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency | 10.6 | 300 | Citations (PDF) |
| 227 | Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections | 10.6 | 156 | Citations (PDF) |
| 228 | Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds | 2.9 | 110 | Citations (PDF) |
| 229 | Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patientsBlood, 2011, 118, 5108-5118 | 4.8 | 117 | Citations (PDF) |
| 230 | First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 casesBlood, 2011, 117, 688-696 | 4.8 | 118 | Citations (PDF) |
| 231 | Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity | 36.3 | 1,552 | Citations (PDF) |
| 232 | Hodgkin lymphoma in 2 children with chronic granulomatous disease | 6.1 | 16 | Citations (PDF) |
| 233 | Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis | 6.1 | 14 | Citations (PDF) |
| 234 | Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency | 6.1 | 58 | Citations (PDF) |
| 235 | Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype | 6.1 | 155 | Citations (PDF) |
| 236 | Granulomatous inflammation in cartilage-hair hypoplasia: Risks and benefits of anti–TNF-α mAbs | 6.1 | 39 | Citations (PDF) |
| 237 | Pneumopathie hypoxémiante à adénovirus de type 7 chez un nourrisson sans déficit immunitaire | 1.3 | 8 | Citations (PDF) |
| 238 | Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: A retrospective, single-center study of 21 patients diagnosed using molecular analysis | 1.8 | 29 | Citations (PDF) |
| 239 | Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)Blood, 2011, 117, 1522-1529 | 4.8 | 354 | Citations (PDF) |
| 240 | New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO proteinBlood, 2011, 118, 926-935 | 4.8 | 53 | Citations (PDF) |
| 241 | Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative studyBlood, 2011, 118, 1675-1684 | 4.8 | 323 | Citations (PDF) |
| 242 | Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LGBlood, 2011, 118, 252-261 | 4.8 | 45 | Citations (PDF) |
| 243 | A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutationBlood, 2011, 118, 4798-4807 | 4.8 | 169 | Citations (PDF) |
| 244 | Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation | 10.6 | 124 | Citations (PDF) |
| 245 | Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature | 25.2 | 242 | Citations (PDF) |
| 246 | Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease | 23.5 | 271 | Citations (PDF) |
| 247 | Genetic lessons learned from X‐linked Mendelian susceptibility to mycobacterial diseases | 4.0 | 91 | Citations (PDF) |
| 248 | Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases | 2.0 | 79 | Citations (PDF) |
| 249 | Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency | 16.7 | 395 | Citations (PDF) |
| 250 | Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome | 4.5 | 25 | Citations (PDF) |
| 251 | Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity | 9.3 | 291 | Citations (PDF) |
| 252 | DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice | 9.3 | 201 | Citations (PDF) |
| 253 | Gain-of-function human
STAT1
mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis | 9.3 | 811 | Citations (PDF) |
| 254 | Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency | 10.6 | 284 | Citations (PDF) |
| 255 | Gene Therapy of Human Blnk Deficiency in NOD/SCID/Gc Ko Murine ModelBlood, 2011, 118, 4717-4717 | 4.8 | 0 | Citations (PDF) |
| 256 | Revisiting Human IL-12Rβ1 Deficiency | 1.2 | 396 | Citations (PDF) |
| 257 | ZAP70: a master regulator of adaptive immunity | 8.1 | 79 | Citations (PDF) |
| 258 | An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma | 2.3 | 12 | Citations (PDF) |
| 259 | Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay | 2.6 | 68 | Citations (PDF) |
| 260 | Immunodeficiency due to mutations in ORAI1 and STIM1 | 2.6 | 180 | Citations (PDF) |
| 261 | Primary immunodeficiencies of protective immunity to primary infections | 2.6 | 65 | Citations (PDF) |
| 262 | Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines? | 5.2 | 138 | Citations (PDF) |
| 263 | Human CD14dim Monocytes Patrol and Sense Nucleic Acids and Viruses via TLR7 and TLR8 Receptors | 22.6 | 1,167 | Citations (PDF) |
| 264 | Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis | 22.6 | 336 | Citations (PDF) |
| 265 | The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88 | 23.5 | 334 | Citations (PDF) |
| 266 | Clinical Disease Caused byKlebsiellain 2 Unrelated Patients With Interleukin 12 Receptor β1 Deficiency | 4.5 | 33 | Citations (PDF) |
| 267 | Classic Kaposi Sarcoma in 3 Unrelated Turkish Children Born to Consanguineous Kindreds | 4.5 | 48 | Citations (PDF) |
| 268 | Hematopoietic Stem Cell Transplantation and Other Management Strategies for MHC Class II Deficiency | 2.0 | 25 | Citations (PDF) |
| 269 | Reduced Expression of FOXP3 and Regulatory T-Cell Function in Severe Forms of Early-onset Autoimmune Enteropathy | 0.9 | 99 | Citations (PDF) |
| 270 | Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency | 1.2 | 412 | Citations (PDF) |
| 271 | Efficacy of Gene Therapy for X-Linked Severe Combined Immunodeficiency | 34.5 | 595 | Citations (PDF) |
| 272 | Immunité innée — Déficits immunitaires et infections à pneumocoques | 0.1 | 0 | Citations (PDF) |
| 273 | STIM1
Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity | 34.5 | 497 | Citations (PDF) |
| 274 | Very Late‐Onset Group BStreptococcusMeningitis, Sepsis, and Systemic Shigellosis due to Interleukin‐1 Receptor–Associated Kinase‐4 Deficiency | 5.2 | 31 | Citations (PDF) |
| 275 | Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome | 4.5 | 142 | Citations (PDF) |
| 276 | Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity | 3.1 | 95 | Citations (PDF) |
| 277 | Le Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH) | 0.0 | 0 | Citations (PDF) |
| 278 | La Société francophone de recherche en pédiatrie : une société menacée ? | 1.3 | 1 | Citations (PDF) |
| 279 | Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiencyBlood, 2009, 113, 4114-4124 | 4.8 | 240 | Citations (PDF) |
| 280 | ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia | 6.1 | 321 | Citations (PDF) |
| 281 | Asplénie : quels sont les risques après une splénectomie ? | 1.3 | 3 | Citations (PDF) |
| 282 | Susceptibilité génétique et infection chez l’enfant | 1.3 | 2 | Citations (PDF) |
| 283 | Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells | 10.6 | 330 | Citations (PDF) |
| 284 | Infections à Streptococcus pneumoniae et à Staphylococcus aureus : quels sont les déficits immunitaires héréditaires à rechercher ? | 0.0 | 0 | Citations (PDF) |
| 285 | Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases | 5.2 | 130 | Citations (PDF) |
| 286 | Inborn errors of interferon (IFN)‐mediated immunity in humans: insights into the respective roles of IFN‐α/β, IFN‐γ, and IFN‐λ in host defense | 6.4 | 310 | Citations (PDF) |
| 287 | Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome) | 25.2 | 80 | Citations (PDF) |
| 288 | Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: An eight-year follow-up | 2.6 | 13 | Citations (PDF) |
| 289 | Diffuse Lymphoplasmacytic Bronchiolitis in Cartilage-Hair Hypoplasia | 2.0 | 6 | Citations (PDF) |
| 290 | IRAK-4- and MyD88-Dependent Pathways Are Essential for the Removal of Developing Autoreactive B Cells in Humans | 22.6 | 214 | Citations (PDF) |
| 291 | Méningites à pneumocoque de l'enfant en France : 832 cas de 2001 à 2007 | 1.3 | 14 | Citations (PDF) |
| 292 | Somatic diversification in the absence of antigen-driven responses is the hallmark of the IgM+IgD+CD27+ B cell repertoire in infants | 9.3 | 147 | Citations (PDF) |
| 293 | Mutation dans le gèneSTAT3chez des patients avec un syndrome Hyper-IgE | 0.2 | 0 | Citations (PDF) |
| 294 | Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness | 25.2 | 216 | Citations (PDF) |
| 295 | Immunotherapy of Familial Hemophagocytic Lymphohistiocytosis With Antithymocyte Globulins: A Single-Center Retrospective Report of 38 Patients | 4.5 | 237 | Citations (PDF) |
| 296 | Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity | 9.3 | 396 | Citations (PDF) |
| 297 | Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytesBlood, 2007, 110, 4285-4292 | 4.8 | 36 | Citations (PDF) |
| 298 | Infection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français | 1.3 | 11 | Citations (PDF) |
| 299 | Detection of 28 novel mutations in the Wiskott–Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR | 1.6 | 9 | Citations (PDF) |
| 300 | Human primary immunodeficiencies of type I interferons | 2.9 | 63 | Citations (PDF) |
| 301 | Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency | 6.1 | 13 | Citations (PDF) |
| 302 | Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis | 25.2 | 191 | Citations (PDF) |
| 303 | Human Toll‐like receptor‐dependent induction of interferons in protective immunity to viruses | 6.4 | 159 | Citations (PDF) |
| 304 | A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34 | 2.9 | 19 | Citations (PDF) |
| 305 | Inherited human IRAK-4 deficiency: an update | 2.7 | 44 | Citations (PDF) |
| 306 | Prédisposition génétique et infections de l'enfant | 1.3 | 6 | Citations (PDF) |
| 307 | Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives | 2.0 | 48 | Citations (PDF) |
| 308 | Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features | 6.7 | 447 | Citations (PDF) |
| 309 | Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections | 2.7 | 49 | Citations (PDF) |
| 310 | Description of an adenovirus A31 outbreak in a paediatric haematology unit | 2.3 | 52 | Citations (PDF) |
| 311 | Mendelian traits that confer predisposition or resistance to specific infections in humans | 5.2 | 64 | Citations (PDF) |
| 312 | Characteristics of HIV-infected children recently diagnosed in Paris, France | 2.1 | 24 | Citations (PDF) |
| 313 | Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome | 2.1 | 39 | Citations (PDF) |
| 314 | Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease | 3.2 | 183 | Citations (PDF) |
| 315 | Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency | 4.5 | 54 | Citations (PDF) |
| 316 | X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production | 9.3 | 274 | Citations (PDF) |
| 317 | IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease | 3.8 | 129 | Citations (PDF) |
| 318 | A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling | 4.5 | 77 | Citations (PDF) |
| 319 | Hematopoietic Stem Cell Transplantation in Hemophagocytic Lymphohistiocytosis: A Single-Center Report of 48 Patients | 4.5 | 261 | Citations (PDF) |
| 320 | Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitis | 2.1 | 19 | Citations (PDF) |
| 321 | Inherited disorders of human Toll-like receptor signaling: immunological implications | 6.4 | 131 | Citations (PDF) |
| 322 | Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children | 2.1 | 28 | Citations (PDF) |
| 323 | NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth | 4.5 | 67 | Citations (PDF) |
| 324 | Septicemia without Sepsis: Inherited Disorders of Nuclear Factor-kB-Mediated Inflammation | 5.2 | 46 | Citations (PDF) |
| 325 | Shigella sonnei Meningitis Due to Interleukin-1 Receptor--Associated Kinase--4 Deficiency: First Association with a Primary Immune Deficiency | 5.2 | 67 | Citations (PDF) |
| 326 | Human TLR-7-, -8-, and -9-Mediated Induction of IFN-α/β and -λ Is IRAK-4 Dependent and Redundant for Protective Immunity to Viruses | 22.6 | 262 | Citations (PDF) |
| 327 | From idiopathic infectious diseases to novel primary immunodeficiencies | 6.1 | 58 | Citations (PDF) |
| 328 | Burkholderia pseudomallei infection in chronic granulomatous disease | 2.1 | 18 | Citations (PDF) |
| 329 | Interleukin (IL)–12 and IL‐23 Are Key Cytokines for Immunity against Salmonella in Humans | 3.7 | 197 | Citations (PDF) |
| 330 | Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes | 3.1 | 139 | Citations (PDF) |
| 331 | Inherited disorders of NF-κB-mediated immunity in man | 5.2 | 194 | Citations (PDF) |
| 332 | Interleukin receptor–associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses | 2.0 | 96 | Citations (PDF) |
| 333 | Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey | 2.0 | 95 | Citations (PDF) |
| 334 | HHV-8–associated Kaposi sarcoma in a child with IFNγR1 deficiency | 2.0 | 101 | Citations (PDF) |
| 335 | Clinical features of dominant and recessive interferon γ receptor 1 deficiencies | 62.1 | 442 | Citations (PDF) |
| 336 | A Novel Developmental and Immunodeficiency Syndrome Associated With Intrauterine Growth Retardation and a Lack of Natural Killer Cells | 4.5 | 48 | Citations (PDF) |
| 337 | Inherited disorders of cytokines | 2.3 | 32 | Citations (PDF) |
| 338 | Nouveaux déficits immunitaires héréditaires et prédisposition génétique aux maladies infectieuses de 1' enfant | 1.3 | 0 | Citations (PDF) |
| 339 | Primary immunodeficiencies associated with pneumococcal disease | 2.3 | 134 | Citations (PDF) |
| 340 | Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds | 6.5 | 275 | Citations (PDF) |
| 341 | Inherited disorders of IL-12- and IFNγ-mediated immunity: a molecular genetics update | 2.2 | 89 | Citations (PDF) |
| 342 | Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency | 2.8 | 37 | Citations (PDF) |
| 343 | RecurrentMycobacterium aviumOsteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation | 4.5 | 53 | Citations (PDF) |
| 344 | High Levels of Interferon Gamma in the Plasma of Children With Complete Interferon Gamma Receptor Deficiency | 4.5 | 74 | Citations (PDF) |
| 345 | Diffuse large B-cell non-Hodgkin's lymphoma in a patient with autoimmune lymphoproliferative syndrome | 2.7 | 20 | Citations (PDF) |
| 346 | Impaired Interferon Gamma-Mediated Immunity and Susceptibility to Mycobacterial Infection in Childhood | 2.2 | 107 | Citations (PDF) |
| 347 | Human interferon-g-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion | 6.4 | 166 | Citations (PDF) |
| 348 | Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B | 2.8 | 44 | Citations (PDF) |
| 349 | DIAGNOSIS AND MANAGEMENT OF INHERITABLE DISORDERS OF INTERFERON-γ–MEDIATED IMMUNITY | 2.0 | 15 | Citations (PDF) |
| 350 | DIAGNOSIS AND MANAGEMENT OF INHERITABLE DISORDERS OF INTERFERON-γ-MEDIATED IMMUNITY | 1.5 | 0 | Citations (PDF) |
| 351 | Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection | 0.7 | 74 | Citations (PDF) |
| 352 | Novel de novo dominant
PSMB10
variants in three patients with immune deficiency and liver disease 0, 2, | | 2 | Citations (PDF) |
| 353 | Characterization of
Streptococcus pyogenes
isolates from French children:
emm-1
genotype is associated with invasive infections and spread of the M1UK clone | 1.5 | 0 | Citations (PDF) |
