Journal of Clinical Immunology

Article	Citations
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee	414
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity	175
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee	161
Serologic Cross-Reactivity of SARS-CoV-2 with Endemic and Seasonal Betacoronaviruses	108
Antibody Response to SARS-CoV-2 is Associated with Long-term Clinical Outcome in Patients with COVID-19: a Longitudinal Study	96
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain	93
Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency	92
SARS-CoV-2-Induced ARDS Associates with MDSC Expansion, Lymphocyte Dysfunction, and Arginine Shortage	87
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy	85
Circulating Levels of Interleukin-6 and Interleukin-10, But Not Tumor Necrosis Factor-Alpha, as Potential Biomarkers of Severity and Mortality for COVID-19: Systematic Review with Meta-analysis	67
SARS-CoV-2 Vaccine Induced Atypical Immune Responses in Antibody Defects: Everybody Does their Best	65
Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona	62
STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions	62
Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia	61
An Update on XMEN Disease	54
Immunologic Features in Coronavirus Disease 2019: Functional Exhaustion of T Cells and Cytokine Storm	54
Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study	54
STING-Mediated Lung Inflammation and Beyond	48
Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma	48
Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency	47
Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency	45
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome	44
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome	43
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations	42
Immune Alterations in a Patient with SARS-CoV-2-Related Acute Respiratory Distress Syndrome	41

A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19	40
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients	40
COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico	39
Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital	39
IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2	39
Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2	37
COVID-19 in Patients with Primary Immunodeficiency	37
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β	37
Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers	35
Thinking Beyond HLH: Clinical Features of Patients with Concurrent Presentation of Hemophagocytic Lymphohistiocytosis and Thrombotic Microangiopathy	34
Flow Cytometry Identifies Risk Factors and Dynamic Changes in Patients with COVID-19	33
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis	33
Tocilizumab for Severe Worsening COVID-19 Pneumonia: a Propensity Score Analysis	33
SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study	33
First Identified Case of Fatal Fulminant Necrotizing Eosinophilic Myocarditis Following the Initial Dose of the Pfizer-BioNTech mRNA COVID-19 Vaccine (BNT162b2, Comirnaty): an Extremely Rare Idiosyncr	32
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity	32
Profiling of T Cell Repertoire in SARS-CoV-2-Infected COVID-19 Patients Between Mild Disease and Pneumonia	31
Severe COVID-19 in Patients with B Cell Alymphocytosis and Response to Convalescent Plasma Therapy	31
X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia	30
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance	30
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance	30
A Case of VEXAS Syndrome Complicated by Hemophagocytic Lymphohistiocytosis	28
Prediction Model Based on the Combination of Cytokines and Lymphocyte Subsets for Prognosis of SARS-CoV-2 Infection	28
Distinctive Features of Kawasaki Disease Following SARS-CoV-2 Infection: a Controlled Study in Paris, France	28
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment	26
Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation	26
Inborn Errors of Adaptive Immunity in Down Syndrome	26
Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System	26
Interferon-α2 Auto-antibodies in Convalescent Plasma Therapy for COVID-19	26
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference	25
A Case–Control Study of the 2019 Influenza Vaccine and Incidence of COVID-19 Among Healthcare Workers	25
Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands	25
Genetic Mosaicism as a Cause of Inborn Errors of Immunity	25
MHC Haplotyping of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population	25
Determinants and Reference Ranges of Serum Immunoglobulins in Middle-Aged and Elderly Individuals: a Population-Based Study	24
Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19	24
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency	24
IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity	24
Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency	23
Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy	23
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature	23
The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)	23
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients	23
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency	22
A Patient with X-Linked Agammaglobulinemia and COVID-19 Infection Treated with Remdesivir and Convalescent Plasma	22
Improvement of Refractory Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease with Single-Agent Blockade of IL-1β and IL-18	21
Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome	21
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences	21
A New Patient with NOCARH Syndrome Due to CDC42 Defect	20
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity	20

Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry	19
Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)	19
A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts	19
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients	19
Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency	19
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies	19
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus	18
Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study	18
Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3	18
Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable Immunodeficiency	18
Biomarkers for Early Diagnosis of Hemophagocytic Lymphohistiocytosis in Critically Ill Patients	18
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients	18
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies	18
Cytokine Profiles Before and After Immune Modulation in Hospitalized Patients with COVID-19	18
Immunodeficiency Disease Spectrum in HIV-Negative Individuals with Talaromycosis	18
SARS-CoV-2 infection in a pediatrics STAT1 GOF patient under Ruxolitinib therapy-a matter of balance?	18
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients	17
Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study	17
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing	17
Clinical and Immunological Features of SARS-CoV-2 Breakthrough Infections in Vaccinated Individuals Requiring Hospitalization	17
Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia	16
N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects	16
Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency	16
STK4 Deficiency Impairs Innate Immunity and Interferon Production Through Negative Regulation of TBK1-IRF3 Signaling	16
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings	16
Persistent COVID-19 Infection in Wiskott-Aldrich Syndrome Cleared Following Therapeutic Vaccination: a Case Report	16
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma	16
Primary Cutaneous Aspergillosis in a Patient with CARD9 Deficiency and Aspergillus Susceptibility of Card9 Knockout Mice	16
COVID-19 Vaccine Uptake and Efficacy in a National Immunodeficiency Cohort	15
SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine	15
Robust Virus-Specific Adaptive Immunity in COVID-19 Patients with SARS-CoV-2 Δ382 Variant Infection	15
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)	15
The Impact of Immunosuppression and Autoimmune Disease on Severe Outcomes in Patients Hospitalized with COVID-19	15
Infections in Patients with Chronic Granulomatous Disease Treated with Tumor Necrosis Factor Alpha Blockers for Inflammatory Complications	15
A Case of XIAP Deficiency Successfully Managed with Tadekinig Alfa (rhIL-18BP)	14
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience	14
Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant	14
Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation	14
Late-Onset EBV Susceptibility and Refractory Pure Red Cell Aplasia Revealing DADA2	14
Experience with a Reduced Toxicity Allogeneic Transplant Regimen for Non-CGD Primary Immune Deficiencies Requiring Myeloablation	14
TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency	14
Elevated CD21low B Cell Frequency Is a Marker of Poor Immunity to Pfizer-BioNTech BNT162b2 mRNA Vaccine Against SARS-CoV-2 in Patients with Common Variable Immunodeficiency	13
Prognostic Value of Blood-Based Inflammatory Biomarkers in Secondary Hemophagocytic Lymphohistiocytosis	13
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency	13
When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review	13
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations	13
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants	13
A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease	13
SARS-CoV-2 infection inducing severe flare up of Deficiency of Interleukin Thirty-six (IL-36) Receptor Antagonist (DITRA) resulting from a mutation invalidating the activating cleavage site of the IL-	12
Transient Increase of Pre-existing Anti-IFN-α2 Antibodies Induced by SARS-CoV-2 Infection	12
BCG-Related Inflammatory Syndromes in Severe Combined Immunodeficiency After TCRαβ+/CD19+ Depleted HSCT	12
The Growing Spectrum of Human Diseases Caused by InheritedCDC42 Mutations	12
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition	12
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis	12
Bacillus Calmette–Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation	12
A20 Haploinsufficiency Presenting with a Combined Immunodeficiency	12
X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry	12
Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia	12
Reduced Intensity Bone Marrow Transplantation with Post-Transplant Cyclophosphamide for Pediatric Inherited Immune Deficiencies and Bone Marrow Failure Syndromes	12
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency	12
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)	12
C1 Esterase Inhibition: Targeting Multiple Systems in COVID-19	12
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease	12
Elevated Expression Levels of Lung Complement Anaphylatoxin, Neutrophil Chemoattractant Chemokine IL-8, and RANTES in MERS-CoV-Infected Patients: Predictive Biomarkers for Disease Severity and Mortali	11
Pediatric Demodicosis Associated with Gain-of-Function Variant in STAT1 Presenting as Rosacea-Type Rash	11
Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome	11
Long-term SARS-CoV-2 Asymptomatic Carriage in an Immunocompromised Host: Clinical, Immunological, and Virological Implications	11
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature	11
Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection	11
Anti-GM-CSF Autoantibodies and Cryptococcus neoformans var. grubii CNS Vasculitis	11
T Cell-Epstein-Barr Virus–Associated Hemophagocytic Lymphohistiocytosis (HLH) Occurs in Non-Asians and Is Associated with a T Cell Activation State that Is Comparable to Primary HLH	11
Raised Serum Markers of T Cell Activation and Exhaustion in Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency	11
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia	11
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis	11
Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review	11
A Systematic Review and Meta-regression Analysis on the Impact of Increasing IgG Trough Level on Infection Rates in Primary Immunodeficiency Patients on Intravenous IgG Therapy	11
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis	11
Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency–Associated Villous Atrophy and Norovirus Infection	11
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity	11
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency	11

The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity	11
Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia	10
Immunogenicity and Safety of COVID-19 mRNA Vaccine in STAT1 GOF Patients	10
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency	10
APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant	10
Long-Term Antibody Response to SARS-CoV-2 in Children	10
Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation	10
POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development	10
Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases	10
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3	10
Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome	10
Ruxolitinib Controls Lymphoproliferation and Diabetes in a STAT3-GOF Patient	10
A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency	10
Chromatin Modifications in 22q11.2 Deletion Syndrome	10
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs	10
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation	10
Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis	10
Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood	10
Clinicopathological Manifestations and Immune Phenotypes in Adult-Onset Immunodeficiency with Anti-interferon-γ Autoantibodies	10
Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD	9
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation	9
Long-Term Immune Recovery After Hematopoietic Stem Cell Transplantation for ADA Deficiency: a Single-Center Experience	9
Soluble Interleukin-2 Receptor Is a Promising Serum Biomarker for Granulomatous Disease in Common Variable Immune Deficiency	9
Cryptococcus gattii Infection as the Major Clinical Manifestation in Patients with Autoantibodies Against Granulocyte–Macrophage Colony-Stimulating Factor	9
Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI)	9
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** A	9
Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome	9
Activated Phosphoinositide 3-Kinase δ Syndrome: a Large Pediatric Cohort from a Single Center in China	9
Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy	9
Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia	9
A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT	9
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings	9
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency	9
Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity	9
Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series	9
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects	9
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients	9
Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease	9
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico	8
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations	8
Characterization of Infants with Idiopathic Transient and Persistent T Cell Lymphopenia Identified by Newborn Screening—a Single-Center Experience in New York State	8
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7	8
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study	8
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling	8
Unraveling the Immune Response in Severe COVID-19	8
Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia	8
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan	8
Resolution of Persistent COVID-19 After Convalescent Plasma in a Patient with B Cell Aplasia	8
MSMD in a 3-Generation Multiplex Kindred Due to Autosomal Dominant STAT1 Deficiency	8
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation	8
A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection	8
Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era	8
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis	8
Thymopoiesis, Alterations in Dendritic Cells and Tregs, and Reduced T Cell Activation in Successful Extracorporeal Photopheresis Treatment of GVHD	8
Combination of WFDC2, CHI3L1, and KRT19 in Plasma Defines a Clinically Useful Molecular Phenotype Associated with Prognosis in Critically Ill COVID-19 Patients	8
BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center	8
Haploidentical Hematopoietic Cell Transplantation Using Post-transplant Cyclophosphamide for Children with Non-malignant Diseases	8
The Relationship Between Mucosal Microbiota, Colitis, and Systemic Inflammation in Chronic Granulomatous Disorder	8
Novel NCF2 Mutation Causing Chronic Granulomatous Disease	8
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency	8
Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain	8
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma	8
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors	7
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis	7
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement	7
SARS-CoV-2 Infection in a Child with Severe Congenital Neutropenia	7
Liver Abscess in Chronic Granulomatous Disease—Two Decades of Experience from a Tertiary Care Centre in North-West India	7
Seasonal Betacoronavirus Antibodies’ Expansion Post-BNT161b2 Vaccination Associates with Reduced SARS-CoV-2 VoC Neutralization	7
Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009–2018)	7
Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study	7
Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review	7
Defining Clinical and Immunological Predictors of Poor Immune Responses to COVID-19 mRNA Vaccines in Patients with Primary Antibody Deficiency	7
Myocarditis in 13-Year-Old Monochorionic Diamniotic Twins After COVID-19 Vaccination	7
Self-Limited COVID-19 in a Patient with Artemis Hypomorphic SCID	7
A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation	7
STAT1 Gain-of-Function and Hidradenitis Suppurativa Successfully Managed with Baricitinib	7
Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human	7
Altered Plasma Fatty Acids Associate with Gut Microbial Composition in Common Variable Immunodeficiency	7
Recovery from COVID-19 in a Child with Chronic Granulomatous Disease and T Cell Lymphopenia	7
JAK Inhibition in a Patient with X-Linked Reticulate Pigmentary Disorder	7
Longitudinal Analysis of Inflammatory Response to SARS-CoV-2 in the Upper Respiratory Tract Reveals an Association with Viral Load, Independent of Symptoms	7
Safety of COVID-19 Vaccination in Immune-Deficient Patients Receiving Supplemental Immunoglobulin Therapies	7
Prolonged Fecal Shedding of SARS-CoV-2 in Asymptomatic Children with Inborn Errors of Immunity	7
Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience	7
Psychological Symptoms in Primary Immunodeficiencies: a Common Comorbidity?	7
Dramatic Efficacy of Ibrutinib in a Schnitzler Syndrome Case with Indolent Lymphoma	7
Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus	7
An Unusual Pattern of Premature Cervical Spine Degeneration in STAT3-LOF	7
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey	7
A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency	7
Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia	7
Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)	7