Journal of Clinical Immunology

Papers
(The TQCC of Journal of Clinical Immunology is 7. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-03-01 to 2024-03-01.)
ArticleCitations
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee366
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee161
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity154
Serologic Cross-Reactivity of SARS-CoV-2 with Endemic and Seasonal Betacoronaviruses107
Antibody Response to SARS-CoV-2 is Associated with Long-term Clinical Outcome in Patients with COVID-19: a Longitudinal Study93
Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency90
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain89
SARS-CoV-2-Induced ARDS Associates with MDSC Expansion, Lymphocyte Dysfunction, and Arginine Shortage84
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy80
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-analysis65
SARS-CoV-2 Vaccine Induced Atypical Immune Responses in Antibody Defects: Everybody Does their Best64
Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona59
Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia59
STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions57
Immunologic Features in Coronavirus Disease 2019: Functional Exhaustion of T Cells and Cytokine Storm54
An Update on XMEN Disease52
Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study51
Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma47
Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency47
STING-Mediated Lung Inflammation and Beyond46
Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency45
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome43
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome42
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations41
Immune Alterations in a Patient with SARS-CoV-2-Related Acute Respiratory Distress Syndrome41
A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-1939
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients39
IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-238
COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico38
COVID-19 in Patients with Primary Immunodeficiency37
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β37
Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-237
Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers34
Flow Cytometry Identifies Risk Factors and Dynamic Changes in Patients with COVID-1933
Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital33
Lymphoproliferative Disease in CVID: a Report of Types and Frequencies from a US Patient Registry33
Thinking Beyond HLH: Clinical Features of Patients with Concurrent Presentation of Hemophagocytic Lymphohistiocytosis and Thrombotic Microangiopathy33
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis32
SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study32
Tocilizumab for Severe Worsening COVID-19 Pneumonia: a Propensity Score Analysis32
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity31
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 Idiosyncr31
Severe COVID-19 in Patients with B Cell Alymphocytosis and Response to Convalescent Plasma Therapy31
Profiling of T Cell Repertoire in SARS-CoV-2-Infected COVID-19 Patients Between Mild Disease and Pneumonia30
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance30
X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia29
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance28
Distinctive Features of Kawasaki Disease Following SARS-CoV-2 Infection: a Controlled Study in Paris, France28
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction27
A Case of VEXAS Syndrome Complicated by Hemophagocytic Lymphohistiocytosis27
Prediction Model Based on the Combination of Cytokines and Lymphocyte Subsets for Prognosis of SARS-CoV-2 Infection26
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment26
Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System25
Inborn Errors of Adaptive Immunity in Down Syndrome25
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference25
Interferon-α2 Auto-antibodies in Convalescent Plasma Therapy for COVID-1925
Determinants and Reference Ranges of Serum Immunoglobulins in Middle-Aged and Elderly Individuals: a Population-Based Study24
Genetic Mosaicism as a Cause of Inborn Errors of Immunity24
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency24
A Case–Control Study of the 2019 Influenza Vaccine and Incidence of COVID-19 Among Healthcare Workers24
Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation23
Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency23
Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands23
MHC Haplotyping of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population23
The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)22
Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy22
A Patient with X-Linked Agammaglobulinemia and COVID-19 Infection Treated with Remdesivir and Convalescent Plasma22
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency22
IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity22
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients21
A New Patient with NOCARH Syndrome Due to CDC42 Defect20
Improvement of Refractory Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease with Single-Agent Blockade of IL-1β and IL-1820
Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-1920
Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome20
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences20
Failure to Prevent Severe Graft-Versus-Host Disease in Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in Chronic Granulomatous Disease19
A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts19
Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry19
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature19
Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP318
Biomarkers for Early Diagnosis of Hemophagocytic Lymphohistiocytosis in Critically Ill Patients18
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity18
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients18
Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)18
Immunodeficiency Disease Spectrum in HIV-Negative Individuals with Talaromycosis17
Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable Immunodeficiency17
Cytokine Profiles Before and After Immune Modulation in Hospitalized Patients with COVID-1917
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients17
SARS-CoV-2 infection in a pediatrics STAT1 GOF patient under Ruxolitinib therapy-a matter of balance?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 Study17
Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study17
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies17
STK4 Deficiency Impairs Innate Immunity and Interferon Production Through Negative Regulation of TBK1-IRF3 Signaling16
Primary Cutaneous Aspergillosis in a Patient with CARD9 Deficiency and Aspergillus Susceptibility of Card9 Knockout Mice16
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus16
N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects16
Clinical and Immunological Features of SARS-CoV-2 Breakthrough Infections in Vaccinated Individuals Requiring Hospitalization16
Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency16
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing16
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies16
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings15
Persistent COVID-19 Infection in Wiskott-Aldrich Syndrome Cleared Following Therapeutic Vaccination: a Case Report15
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)15
Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency15
Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia15
Infections in Patients with Chronic Granulomatous Disease Treated with Tumor Necrosis Factor Alpha Blockers for Inflammatory Complications15
Robust Virus-Specific Adaptive Immunity in COVID-19 Patients with SARS-CoV-2 Δ382 Variant Infection15
The Impact of Immunosuppression and Autoimmune Disease on Severe Outcomes in Patients Hospitalized with COVID-1915
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients15
Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation14
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma14
A Case of XIAP Deficiency Successfully Managed with Tadekinig Alfa (rhIL-18BP)14
COVID-19 Vaccine Uptake and Efficacy in a National Immunodeficiency Cohort14
Late-Onset EBV Susceptibility and Refractory Pure Red Cell Aplasia Revealing DADA214
SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine14
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants13
Prognostic Value of Blood-Based Inflammatory Biomarkers in Secondary Hemophagocytic Lymphohistiocytosis13
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 Immunodeficiency13
TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency13
Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant13
Experience with a Reduced Toxicity Allogeneic Transplant Regimen for Non-CGD Primary Immune Deficiencies Requiring Myeloablation13
A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease13
When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review13
Reduced Intensity Bone Marrow Transplantation with Post-Transplant Cyclophosphamide for Pediatric Inherited Immune Deficiencies and Bone Marrow Failure Syndromes12
BCG-Related Inflammatory Syndromes in Severe Combined Immunodeficiency After TCRαβ+/CD19+ Depleted HSCT12
The Growing Spectrum of Human Diseases Caused by InheritedCDC42 Mutations12
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
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations12
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience12
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency12
C1 Esterase Inhibition: Targeting Multiple Systems in COVID-1912
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 HLH11
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity11
Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review11
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 Therapy11
Raised Serum Markers of T Cell Activation and Exhaustion in Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency11
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature11
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 Mortali11
Transient Increase of Pre-existing Anti-IFN-α2 Antibodies Induced by SARS-CoV-2 Infection11
The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity11
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease10
Clinicopathological Manifestations and Immune Phenotypes in Adult-Onset Immunodeficiency with Anti-interferon-γ Autoantibodies10
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition10
Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome10
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis10
Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection10
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency10
Anti-GM-CSF Autoantibodies and Cryptococcus neoformans var. grubii CNS Vasculitis10
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis10
Ruxolitinib Controls Lymphoproliferation and Diabetes in a STAT3-GOF Patient10
Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation10
Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood10
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation10
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency10
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency10
X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry10
Pediatric Demodicosis Associated with Gain-of-Function Variant in STAT1 Presenting as Rosacea-Type Rash10
Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency10
POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development10
Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency–Associated Villous Atrophy and Norovirus Infection10
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis10
Long-term SARS-CoV-2 Asymptomatic Carriage in an Immunocompromised Host: Clinical, Immunological, and Virological Implications10
Bacillus Calmette–Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation10
Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia10
Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD9
Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis9
Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series9
Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum9
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia9
Immunogenicity and Safety of COVID-19 mRNA Vaccine in STAT1 GOF Patients9
A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT9
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) ** A9
Long-Term Immune Recovery After Hematopoietic Stem Cell Transplantation for ADA Deficiency: a Single-Center Experience9
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects9
Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy9
Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases9
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT39
Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease9
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation9
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency9
Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome9
Soluble Interleukin-2 Receptor Is a Promising Serum Biomarker for Granulomatous Disease in Common Variable Immune Deficiency9
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs9
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings9
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)9
A20 Haploinsufficiency Presenting with a Combined Immunodeficiency9
Haploidentical Hematopoietic Cell Transplantation Using Post-transplant Cyclophosphamide for Children with Non-malignant Diseases8
Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia8
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK78
Chromatin Modifications in 22q11.2 Deletion Syndrome8
Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia8
Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain8
Thymopoiesis, Alterations in Dendritic Cells and Tregs, and Reduced T Cell Activation in Successful Extracorporeal Photopheresis Treatment of GVHD8
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico8
Resolution of Persistent COVID-19 After Convalescent Plasma in a Patient with B Cell Aplasia8
APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant8
Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity8
Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)8
A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency8
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis8
Unraveling the Immune Response in Severe COVID-198
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma8
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations8
MSMD in a 3-Generation Multiplex Kindred Due to Autosomal Dominant STAT1 Deficiency8
Characterization of Infants with Idiopathic Transient and Persistent T Cell Lymphopenia Identified by Newborn Screening—a Single-Center Experience in New York State8
Activated Phosphoinositide 3-Kinase δ Syndrome: a Large Pediatric Cohort from a Single Center in China8
Cryptococcus gattii Infection as the Major Clinical Manifestation in Patients with Autoantibodies Against Granulocyte–Macrophage Colony-Stimulating Factor8
A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection8
Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era8
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients8
Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia8
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan8
Combination of WFDC2, CHI3L1, and KRT19 in Plasma Defines a Clinically Useful Molecular Phenotype Associated with Prognosis in Critically Ill COVID-19 Patients7
Long-Term Antibody Response to SARS-CoV-2 in Children7
Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus7
Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome7
Recovery from COVID-19 in a Child with Chronic Granulomatous Disease and T Cell Lymphopenia7
JAK Inhibition in a Patient with X-Linked Reticulate Pigmentary Disorder7
Safety of COVID-19 Vaccination in Immune-Deficient Patients Receiving Supplemental Immunoglobulin Therapies7
Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study7
Urogenital Abnormalities in Adenosine Deaminase Deficiency7
Myocarditis in 13-Year-Old Monochorionic Diamniotic Twins After COVID-19 Vaccination7
Self-Limited COVID-19 in a Patient with Artemis Hypomorphic SCID7
A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation7
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 Involvement7
Altered Plasma Fatty Acids Associate with Gut Microbial Composition in Common Variable Immunodeficiency7
Liver Abscess in Chronic Granulomatous Disease—Two Decades of Experience from a Tertiary Care Centre in North-West India7
The Relationship Between Mucosal Microbiota, Colitis, and Systemic Inflammation in Chronic Granulomatous Disorder7
Novel NCF2 Mutation Causing Chronic Granulomatous Disease7
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency7
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study7
Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia7
Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)7
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis7
Dramatic Efficacy of Ibrutinib in a Schnitzler Syndrome Case with Indolent Lymphoma7
BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center7
SARS-CoV-2 Infection in a Child with Severe Congenital Neutropenia7
Management of Chronic Immune Thrombocytopenia and Presumed Autoimmune Hepatitis in a Child with IKAROS Haploinsufficiency7
Seasonal Betacoronavirus Antibodies’ Expansion Post-BNT161b2 Vaccination Associates with Reduced SARS-CoV-2 VoC Neutralization7
Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009–2018)7
A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency7
Longitudinal Analysis of Inflammatory Response to SARS-CoV-2 in the Upper Respiratory Tract Reveals an Association with Viral Load, Independent of Symptoms7
Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI)7
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors7
Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience7
Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human7
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