Journal of Clinical Immunology

Papers
(The TQCC of Journal of Clinical Immunology is 6. 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 2020-11-01 to 2024-11-01.)
ArticleCitations
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee548
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity223
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee165
Antibody Response to SARS-CoV-2 is Associated with Long-term Clinical Outcome in Patients with COVID-19: a Longitudinal Study109
Serologic Cross-Reactivity of SARS-CoV-2 with Endemic and Seasonal Betacoronaviruses108
Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency99
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain98
SARS-CoV-2-Induced ARDS Associates with MDSC Expansion, Lymphocyte Dysfunction, and Arginine Shortage92
STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions71
Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona70
SARS-CoV-2 Vaccine Induced Atypical Immune Responses in Antibody Defects: Everybody Does their Best67
Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia64
STING-Mediated Lung Inflammation and Beyond58
Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study57
Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency51
Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency50
Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma49
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome49
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients46
Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital44
COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico43
A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-1942
COVID-19 in Patients with Primary Immunodeficiency41
IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-239
Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-238
SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study38
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β37
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity37
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 Idiosyncr37
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance36
Profiling of T Cell Repertoire in SARS-CoV-2-Infected COVID-19 Patients Between Mild Disease and Pneumonia35
Tocilizumab for Severe Worsening COVID-19 Pneumonia: a Propensity Score Analysis34
Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation31
X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia31
Severe COVID-19 in Patients with B Cell Alymphocytosis and Response to Convalescent Plasma Therapy31
A Case of VEXAS Syndrome Complicated by Hemophagocytic Lymphohistiocytosis30
Distinctive Features of Kawasaki Disease Following SARS-CoV-2 Infection: a Controlled Study in Paris, France29
Genetic Mosaicism as a Cause of Inborn Errors of Immunity29
Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System29
Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-1928
Improvement of Refractory Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease with Single-Agent Blockade of IL-1β and IL-1828
IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity28
Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy28
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature28
Determinants and Reference Ranges of Serum Immunoglobulins in Middle-Aged and Elderly Individuals: a Population-Based Study27
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences27
Interferon-α2 Auto-antibodies in Convalescent Plasma Therapy for COVID-1927
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency27
A Case–Control Study of the 2019 Influenza Vaccine and Incidence of COVID-19 Among Healthcare Workers26
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency26
Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency26
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference26
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment26
MHC Haplotyping of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population25
Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome25
The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)25
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies23
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies23
Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable Immunodeficiency23
Biomarkers for Early Diagnosis of Hemophagocytic Lymphohistiocytosis in Critically Ill Patients23
Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency23
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)23
A Patient with X-Linked Agammaglobulinemia and COVID-19 Infection Treated with Remdesivir and Convalescent Plasma22
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus21
Clinical and Immunological Features of SARS-CoV-2 Breakthrough Infections in Vaccinated Individuals Requiring Hospitalization20
A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts20
A Case of XIAP Deficiency Successfully Managed with Tadekinig Alfa (rhIL-18BP)20
SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine20
Primary Cutaneous Aspergillosis in a Patient with CARD9 Deficiency and Aspergillus Susceptibility of Card9 Knockout Mice19
SARS-CoV-2 infection in a pediatrics STAT1 GOF patient under Ruxolitinib therapy-a matter of balance?19
Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study19
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency19
Cytokine Profiles Before and After Immune Modulation in Hospitalized Patients with COVID-1918
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings18
Infections in Patients with Chronic Granulomatous Disease Treated with Tumor Necrosis Factor Alpha Blockers for Inflammatory Complications18
Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency18
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing18
N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects17
Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia16
Persistent COVID-19 Infection in Wiskott-Aldrich Syndrome Cleared Following Therapeutic Vaccination: a Case Report16
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations16
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition16
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants16
X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry16
The Impact of Immunosuppression and Autoimmune Disease on Severe Outcomes in Patients Hospitalized with COVID-1916
A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease16
Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation15
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease15
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia15
The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity15
TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency15
Robust Virus-Specific Adaptive Immunity in COVID-19 Patients with SARS-CoV-2 Δ382 Variant Infection15
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience15
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling15
COVID-19 Vaccine Uptake and Efficacy in a National Immunodeficiency Cohort15
Raised Serum Markers of T Cell Activation and Exhaustion in Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency15
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients15
Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant15
Transient Increase of Pre-existing Anti-IFN-α2 Antibodies Induced by SARS-CoV-2 Infection15
Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency–Associated Villous Atrophy and Norovirus Infection14
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency14
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 HLH14
Reduced Intensity Bone Marrow Transplantation with Post-Transplant Cyclophosphamide for Pediatric Inherited Immune Deficiencies and Bone Marrow Failure Syndromes14
Long-term SARS-CoV-2 Asymptomatic Carriage in an Immunocompromised Host: Clinical, Immunological, and Virological Implications14
Long-Term Antibody Response to SARS-CoV-2 in Children14
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-14
Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome14
When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review14
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 Immunodeficiency14
Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD13
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis13
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity13
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis13
Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood12
Clinicopathological Manifestations and Immune Phenotypes in Adult-Onset Immunodeficiency with Anti-interferon-γ Autoantibodies12
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma12
Psychological Symptoms in Primary Immunodeficiencies: a Common Comorbidity?12
Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity12
Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia12
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 Mortali12
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation12
Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection12
C1 Esterase Inhibition: Targeting Multiple Systems in COVID-1912
Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation12
POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development12
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature12
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan12
Long-Term Immune Recovery After Hematopoietic Stem Cell Transplantation for ADA Deficiency: a Single-Center Experience11
A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency11
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT311
Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease11
Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome11
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK711
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study11
Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers11
Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis11
COVID-19 Adenoviral Vector Vaccination Elicits a Robust Memory B Cell Response with the Capacity to Recognize Omicron BA.2 and BA.5 Variants11
Immunogenicity and Safety of COVID-19 mRNA Vaccine in STAT1 GOF Patients11
A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT11
Activated Phosphoinositide 3-Kinase δ Syndrome: a Large Pediatric Cohort from a Single Center in China10
An Immunological Axis Involving Interleukin 1β and Leucine-Rich-α2-Glycoprotein Reflects Therapeutic Response of Children with Kawasaki Disease: Implications from the KAWAKINRA Trial10
Chromatin Modifications in 22q11.2 Deletion Syndrome10
Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era10
Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases10
Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency10
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey10
Pediatric Demodicosis Associated with Gain-of-Function Variant in STAT1 Presenting as Rosacea-Type Rash10
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency10
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis10
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors10
Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome10
The Relationship Between Mucosal Microbiota, Colitis, and Systemic Inflammation in Chronic Granulomatous Disorder10
Cryptococcus gattii Infection as the Major Clinical Manifestation in Patients with Autoantibodies Against Granulocyte–Macrophage Colony-Stimulating Factor10
Soluble Interleukin-2 Receptor Is a Promising Serum Biomarker for Granulomatous Disease in Common Variable Immune Deficiency10
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs10
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency10
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency9
Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy9
Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)9
Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis9
Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human9
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development9
TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia9
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects9
Prolonged Fecal Shedding of SARS-CoV-2 in Asymptomatic Children with Inborn Errors of Immunity9
Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders9
Characterization of Infants with Idiopathic Transient and Persistent T Cell Lymphopenia Identified by Newborn Screening—a Single-Center Experience in New York State9
Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009–2018)9
Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain9
Myocarditis in 13-Year-Old Monochorionic Diamniotic Twins After COVID-19 Vaccination9
Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency9
Haploidentical Hematopoietic Cell Transplantation Using Post-transplant Cyclophosphamide for Children with Non-malignant Diseases9
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis8
Distinct CD8 T Cell Populations with Differential Exhaustion Profiles Associate with Secondary Complications in Common Variable Immunodeficiency8
Defining Clinical and Immunological Predictors of Poor Immune Responses to COVID-19 mRNA Vaccines in Patients with Primary Antibody Deficiency8
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico8
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations8
Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency8
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation8
A Minimal Parameter Set Facilitating Early Decision-making in the Diagnosis of Hemophagocytic Lymphohistiocytosis8
Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia8
CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited8
Liver Abscess in Chronic Granulomatous Disease—Two Decades of Experience from a Tertiary Care Centre in North-West India8
BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center8
Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients8
Altered Plasma Fatty Acids Associate with Gut Microbial Composition in Common Variable Immunodeficiency8
Longitudinal Analysis of Inflammatory Response to SARS-CoV-2 in the Upper Respiratory Tract Reveals an Association with Viral Load, Independent of Symptoms8
Immune Responses 6 Months After mRNA-1273 COVID-19 Vaccination and the Effect of a Third Vaccination in Patients with Inborn Errors of Immunity8
Thymopoiesis, Alterations in Dendritic Cells and Tregs, and Reduced T Cell Activation in Successful Extracorporeal Photopheresis Treatment of GVHD8
Combination of WFDC2, CHI3L1, and KRT19 in Plasma Defines a Clinically Useful Molecular Phenotype Associated with Prognosis in Critically Ill COVID-19 Patients8
Resolution of Persistent COVID-19 After Convalescent Plasma in a Patient with B Cell Aplasia8
HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions8
Comprehensive Assessment of Skin Disorders in Patients with Common Variable Immunodeficiency (CVID)7
Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation7
Seasonal Betacoronavirus Antibodies’ Expansion Post-BNT161b2 Vaccination Associates with Reduced SARS-CoV-2 VoC Neutralization7
Safety of COVID-19 Vaccination in Immune-Deficient Patients Receiving Supplemental Immunoglobulin Therapies7
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options7
Self-Limited COVID-19 in a Patient with Artemis Hypomorphic SCID7
STAT1 Gain-of-Function and Hidradenitis Suppurativa Successfully Managed with Baricitinib7
Phenotypical and Functional Characterization of Neutrophils in Two Pyrin-Associated Auto-inflammatory Diseases7
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease7
CD8 + T Cells Exhibit an Exhausted Phenotype in Hemophagocytic Lymphohistiocytosis7
Hematopoietic Cell Transplant for CD40 Ligand Deficiency—Comparing Busulfan Versus Treosulfan7
Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia7
Clinical Features of Female Taiwanese Carriers with X-linked Chronic Granulomatous Disease from 2004 to 20197
Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child7
Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study7
Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency Disorders7
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency7
Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience7
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
Monitoring of Both Humoral and Cellular Immunities Could Early Predict COVID-19 Vaccine Efficacy Against the Different SARS-CoV2 Variants7
Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network7
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation7
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence7
SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency7
Accelerated Maturation, Exhaustion, and Senescence of T cells in 22q11.2 Deletion Syndrome7
A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA7
Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma7
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds7
Anaphylaxis to SARS-CoV-2 Vaccines in the Setting of a Nationwide Passive Epidemiological Surveillance Program7
SARS-CoV-2 Infection in a Child with Severe Congenital Neutropenia7
COVID-19 in CVID: a Case Series of 17 Patients7
Dramatic Efficacy of Ibrutinib in a Schnitzler Syndrome Case with Indolent Lymphoma7
An Unusual Pattern of Premature Cervical Spine Degeneration in STAT3-LOF7
A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation7
ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss7
Antiviral T-Cell Frequencies in a Healthy Population: Reference Values for Evaluating Antiviral Immune Cell Profiles in Immunocompromised Patients6
Low Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality6
Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome6
Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia6
Disseminated Cryptococcosis in a Patient with CD40 Ligand Deficiency6
Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan6
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations6
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK86
CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses6
A Case of Two Adult Brothers with Wiskott-Aldrich Syndrome, One Treated with Gene Therapy and One with HLA-Identical Hematopoietic Stem Cell Transplantation6
Infection Phenotypes Among Patients with Primary Antibody Deficiency Mined from a US Patient Registry6
Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.36
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains6
Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity6
SCID and Other Inborn Errors of Immunity with Low TRECs — the Brazilian Experience6
Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years6
Life-Threatening Enterovirus 71 Encephalitis in Unrelated Children with Autosomal Dominant TLR3 Deficiency6
PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID6
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population6
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders6
Comparison of Serum Total IgA Levels in Severe and Mild COVID-19 Patients and Control Group6
Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency6
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation6
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