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Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia Svetlana VakkilainenKira Ahonenon behalf of ESID Correspondence 27 April 2024 Article: 115
Expression of full-length FOXP3 exceeds other isoforms in thymus and stimulated CD4 + T cells Benita KrögerMichael SpohnReiner K. Mailer Comment Open access 27 April 2024 Article: 114
Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome Robin KechicheClémence DavidMarie-Louise Frémond Correspondence 27 April 2024 Article: 112
A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency Brenna LabereElizabeth ChristianAlicia M. Johnston Correspondence 27 April 2024 Article: 111
T-cell Defects in a Patient with NFKBIA Gene Mutation Jing WuYing-Ying JinTong-Xin Chen Letter to Editor 27 April 2024 Article: 110
Assessment of Sleep Disorders in Patients with CVID Mantavya PunjSeyed Sina NeshatJacqueline D. Squire Research 27 April 2024 Article: 109
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion Ceyda Tuna KırsaçlıoğluAlexandra FrohneAydan Kansu Original Article Open access 27 April 2024 Article: 108
Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency Elizabeth Daly HicksGeoffrey HallTalal Mousallem Research Open access 27 April 2024 Article: 107
Gérard Orth: From Viral to Human Genes Underlying Warts Jean-Laurent CasanovaEmmanuelle Jouanguy Obituary Open access 27 April 2024 Article: 106
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet) Linda RossiniSilvia RicciAntonio Marzollo Research 27 April 2024 Article: 105
Suppression of Type I Interferon Signaling in Myeloid Cells by Autoantibodies in Severe COVID-19 Patients Ami AokiChiaki IwamuraKiyoshi Hirahara Original Article Open access 22 April 2024 Article: 104
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis Takako SuzukiYoshitaka SatoJun-ichi Kawada Research 20 April 2024 Article: 103
Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity Qifan LiWenjie WangJinqiao Sun Research Open access 18 April 2024 Article: 102
Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center Raed AlzyoudMotasem AlsuweitiHamazh Nsour Research 17 April 2024 Article: 101
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX Linda RossiniClaudia Maria BonardiAntonio Marzollo Letter to Editor 16 April 2024 Article: 100
Mendelian Causes of Autoimmunity: the Lupus Phenotype Maud TusseauSamira Khaldi-PlassartAlexandre Belot Review 15 April 2024 Article: 99
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3 Christo TsilifisJarmila Stremenova SpegarovaAndrew R. Gennery Research Open access 10 April 2024 Article: 98
Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine Lorne SchweitzerSapha BarkatiDonald C. Vinh Letter to Editor 08 April 2024 Article: 97
Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform Rafah MackehYasmin El BsatBernice Lo Original Article Open access 08 April 2024 Article: 96
OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers Laura Batlle-MasóMaria AntolinRoger Colobran Correspondence 05 April 2024 Article: 95
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion Ibrahim Serhat KarakusMehmet Cihangir CatakSafa Baris Original Article Open access 05 April 2024 Article: 94
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns Andrey V. MarakhonovIrina Yu. EfimovaSergey I. Kutsev Research 05 April 2024 Article: 93
Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children Mai Magdy SaadRadwa AlkadyAisha M. Elmarsafy Research Open access 05 April 2024 Article: 92
Monozygotic Twins with MAGT1 Deficiency and Epstein–Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report Jiachen WangMi ZhouLiang Huang Letter to Editor Open access 05 April 2024 Article: 91
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect Suprit BasuShubham GoelBiman Saikia Letter to Editor 05 April 2024 Article: 90
A deep intronic BTK variant underlies X-linked agammaglobulinemia Shoichiro TateishiShoichi ShimizuKohsuke Imai Correspondence 05 April 2024 Article: 89
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment Jiahui ZhangPanfeng TaoQing Zhou Review 05 April 2024 Article: 88
22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features Alexis M. CrockettHania KebirJorge I. Alvarez Research 05 April 2024 Article: 87
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report John McDonnellKimberley CousinsRebecca Marsh Original Article Open access 05 April 2024 Article: 86
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib Laura DottaFrancesca TodaroRaffaele Badolato Research Open access 05 April 2024 Article: 85
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF June-Young KohDoo Ri KimEui-Cheol Shin Original Article Open access 05 April 2024 Article: 84
Correction to: Clinical Characteristics of Pediatric Patients with LRBA Deficiency in Mexico Eduardo Liquidano‑PerezSelma Scheffler‑MendozaGabriela Lopez‑Herrera Correction 04 April 2024 Article: 83
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis Nora PernaaAnni VakkuriTimo Hautala Research Open access 15 March 2024 Article: 81
Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome Valentina FrusoneKelly MaurerKathleen E. Sullivan Research 15 March 2024 Article: 82
Prevalence of Neutralizing Autoantibodies Against Type I Interferon in a Multicenter Cohort of Severe or Critical COVID-19 Cases in Shanghai Dongling ShiJie ChenYun Ling Research Open access 10 March 2024 Article: 80
Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia Evey HowleyMaarja SoomannAlexandra Y. Kreins Research Open access 08 March 2024 Article: 79
Pharmacokinetics of Baricitinib in Cerebrospinal Fluid and Plasma in a Patient with SPENCD Micol RomanoAshley GeerlinkFacundo Garcia-Bournissen Correspondence 08 March 2024 Article: 78
Involvement of IL-17 A/IL-17 Receptor A with Neutrophil Recruitment and the Severity of Coronary Arteritis in Kawasaki Disease I-Chun LinJau-Ling SuenLin Wang Original Article Open access 07 March 2024 Article: 77
The Complexity of Being A20: From Biological Functions to Genetic Associations Urekha KarriMagdalena HarasimowiczDaniella M. Schwartz Review 07 March 2024 Article: 76
Clinical Characteristics of Pediatric Patients with LRBA Deficiency in Mexico Eduardo Liquidano-PerezSelma Scheffler-MendozaGabriela Lopez-Herrera Letter to Editor 06 March 2024 Article: 75
Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis Fayhan J. AlroqiMusaab A. AlhezamAbdulrahman Alrasheed Research Open access 01 March 2024 Article: 73
A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation Baran ErmanSevgi Köstel BalKaan Boztug Research Open access 01 March 2024 Article: 74
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers Priya K. PatelMichell Lozano ChingaJolan E. Walter Correction 29 February 2024 Article: 72
Psychosocial Evaluation of Adults with Primary Immunodeficiency Reyhan GumusburunSevgi AltayOmur Ardeniz Research Open access 27 February 2024 Article: 71
Successful Treatment of Refractory EBV-Associated Hemophagocytic Lymphohistiocytosis with Combined Emapalumab and PD-1 Blockade Yue SongWeiyang LiJianhong Fu Correspondence 24 February 2024 Article: 70
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease Sarah-Jolan BremerAnnika BoxnickAnna Gieras Original Article Open access 23 February 2024 Article: 69
Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome Saba JafarpourJolee SuddockJonathan D. Santoro Correspondence 21 February 2024 Article: 68
Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency Ping WangXiaowen QianXiaowen Zhai Original Article 19 February 2024 Article: 67