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 2021-04-01 to 2025-04-01.)
ArticleCitations
ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis735
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling311
Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort118
Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity108
Correction to: Anifrolumab in Monogenic Lupus caused by TREX1 Mutation84
Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders79
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors—a Report of 2 Cases68
Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia61
CTLA4-Ig Effectively Controls Clinical Deterioration and Immune Condition in a Murine Model of Foxp3 Deficiency58
Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity56
Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes55
CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited53
Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers53
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX49
Soluble Interleukin-2 Receptor/White Blood Cell Ratio Reflects Granulomatous Disease Progression in Common Variable Immune Deficiency45
Selected Abstracts from the 13th Annual Meeting of the Clinical Immunology Society: 2022 Annual Meeting: Immune Deficiency and Dysregulation North American Conference43
COVID-19 in CVID: a Case Series of 17 Patients43
Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies41
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico41
Long-Term Safety of Facilitated Subcutaneous Immunoglobulin 10% Treatment in US Clinical Practice in Patients with Primary Immunodeficiency Diseases: Results from a Post-Authorization Safety Study40
Perspective - Was it All for Nothing?39
T-cell Defects in a Patient with NFKBIA Gene Mutation37
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report36
First Use of Thymus Transplantation in PAX1 Deficiency35
“The Regimental Paediatrician”: the New Children’s Hospital34
A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease34
Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?34
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia33
Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis33
First Identified Case of Fatal Fulminant Eosinophilic Myocarditis Following the Initial Dose of the Pfizer-BioNTech mRNA COVID-19 Vaccine (BNT162b2, Comirnaty): an Extremely Rare Idiosyncratic Necroti32
Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases31
Health-Related Quality of Life in 91 Patients with X-Linked Agammaglobulinemia30
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants30
Dramatic Efficacy of Ibrutinib in a Schnitzler Syndrome Case with Indolent Lymphoma29
Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human29
Peripheral T Cell Populations are Differentially Affected in Familial Mediterranean Fever, Chronic Granulomatous Disease, and Gout27
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation27
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients26
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity26
Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers26
Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT26
Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease26
Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases25
Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency23
Immune Response Against SARS-CoV-2 Infection and Vaccination in a CD8α-Deficient Patient22
Infection and Vaccine Induced Spike Antibody Responses Against SARS-CoV-2 Variants of Concern in COVID-19-Naïve Children and Adults22
Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform21
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease21
A deep intronic BTK variant underlies X-linked agammaglobulinemia21
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency21
Clinical Validation of a Primary Antibody Deficiency Screening Algorithm for Primary Care21
Outcomes of X-Linked Agammaglobulinaemia Patients20
Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency20
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion20
Unusual Manifestations of APECED20
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency20
Compound Heterozygosity in Hyper‑IgM Syndrome Type 3: Case Report and Literature Review20
Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients19
Undetectable NK Cells due to the FCGR3A Variant, L66H, Which May Not Be Directly Disease-Causing19
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient19
Atypical Autosomal Recessive AID Deficiency—Yet Another Piece of the Hyper-IgM Puzzle19
Tolerability and Safety of Large-Volume Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% Administered with or without Dose Ramp-Up: A Phase 1 Study in Healthy Participants18
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome17
Correction to: PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID17
Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant17
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant17
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 Involvement17
Combination of WFDC2, CHI3L1, and KRT19 in Plasma Defines a Clinically Useful Molecular Phenotype Associated with Prognosis in Critically Ill COVID-19 Patients17
IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency17
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase16
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study16
Steady-State Serum IgG Trough Levels Are Adequate for Pharmacokinetic Assessment in Patients with Immunodeficiencies Receiving Subcutaneous Immune Globulin16
Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine16
Disseminated Tuberculosis in a Patient with Autosomal Recessive p47phox Chronic Granulomatous Disease16
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?16
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning16
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation16
SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine15
Severe Combined Immunodeficiency (SCID)—the Irish Experience15
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia15
Evaluation of Frequency of CMV Replication and Disease Complications Reveals New Cellular Defects and a Time Dependent Pattern in CVID Patients15
SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease15
High Prevalence of Likely Passively Acquired Anti-TPO and Anti-GAD Autoantibodies in Common Variable Immunodeficiency15
BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center15
Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection14
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH114
Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease14
A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation14
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis14
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar14
Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation13
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections13
Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series13
Antibody Response to SARS-CoV-2 is Associated with Long-term Clinical Outcome in Patients with COVID-19: a Longitudinal Study13
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation13
Utility of Immunohistochemistry and Immunofluorescence in Determining the Pathogenic Variants of Chronic Granulomatous Disease13
SARS-CoV-2 Infection in a Child with Severe Congenital Neutropenia13
A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-1913
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency13
Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis13
PEPD-Related Prolidase Deficiency Presenting as Hyper-immunoglobulin E Syndrome12
Argentinian X-MAID Siblings with One of Them Manifesting a Rare Ophthalmological Complication12
STAT1 Gain-of-Function and Hidradenitis Suppurativa Successfully Managed with Baricitinib12
A Case Report of SAVI Mimicking Early-Onset ANCA Vasculitis12
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases12
Steroid-Responsive Pulmonary Hypertension in a Pediatric Patient with Chronic Granulomatous Disease and Histoplasmosis12
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies12
A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature12
A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT12
Prevalence of APECED-Like Clinical Disease in an Electronic Health Record Database, USA12
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature12
Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis12
Knowledge, Attitudes, and Practices of Allergists/Immunologists Regarding Transition of Care for Primary Immunodeficiency Patients12
MAGT1 Gene Mutation is Associated with Myositis and CD127 Expression Downregulation12
Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency11
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses11
Expanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease11
CD8 + T Cells Exhibit an Exhausted Phenotype in Hemophagocytic Lymphohistiocytosis11
Letermovir for CMV Prophylaxis in Very High-Risk Pediatric Hematopoietic Stem Cell Transplantation Recipients for Inborn Errors of Immunity11
The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity11
Severe Disseminated Mycobacterium kansasii Infection due to Autoantibodies Against IFN-ɣ11
Interferon-α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children11
Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection11
Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency11
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)11
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations11
Health-Related Quality of Life of Patients and Families with Primary Immunodeficiency in Malaysia: a Cross-Sectional Study11
Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome11
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation11
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry11
Characteristics and Outcomes of Anti-interferon Gamma Antibody-Associated Adult Onset Immunodeficiency11
Correction to: Gene Editing Rescues in Vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System10
Correction to: Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türk10
Interferon-α2 Auto-antibodies in Convalescent Plasma Therapy for COVID-1910
Psychological Symptoms in Primary Immunodeficiencies: a Common Comorbidity?10
Correction to: De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE‑1 Element Insertion Resulting in Chronic Granulomatous Disease10
Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors10
Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort10
Monitoring of Both Humoral and Cellular Immunities Could Early Predict COVID-19 Vaccine Efficacy Against the Different SARS-CoV2 Variants10
Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey10
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency10
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans10
SARS-CoV-2 infection in a pediatrics STAT1 GOF patient under Ruxolitinib therapy-a matter of balance?10
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan9
The Complexity of Being A20: From Biological Functions to Genetic Associations9
Abnormal Immune Profile in Individuals with Kabuki Syndrome9
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies9
Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings – the PIDCAP Project9
Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency9
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity9
SCID and Other Inborn Errors of Immunity with Low TRECs — the Brazilian Experience9
STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions9
Mendelian Causes of Autoimmunity: the Lupus Phenotype9
Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy9
Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center9
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity9
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency9
Proteomic Analysis of Pediatric Hemophagocytic Lymphohistiocytosis: a Comparative Study with Healthy Controls, Sepsis, Critical Ill, and Active Epstein-Barr virus Infection to Identify Altered Pathway9
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia9
Is There a Clinical Significance of Very Low Serum Immunoglobulin E Level?9
Delayed Presentation of IRAK4 Deficiency9
Lower Humoral and Cellular Immunity Following Asymptomatic SARS-CoV-2 Infection Compared to Symptomatic Infection in Education (The ACE Cohort)9
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry8
Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975–2022)8
A Clinical Conundrum with Diagnostic and Therapeutic Challenge: a Tale of Two Disorders in One Case8
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience8
Self-Limited COVID-19 in a Patient with Artemis Hypomorphic SCID8
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home8
Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection8
OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers8
Hyper-IgD Syndrome: Caused by Deficiency on Ras Prenylation and Trained Immunity?8
Correction to: Clinical Characteristics of Pediatric Patients with LRBA Deficiency in Mexico8
Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI)8
Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome8
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment8
“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease8
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development8
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations8
Non-Helicobacter pylori Helicobacter Species as a Cause of Refractory Chronic Cellulitis in X-Linked Agammaglobulinemia8
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity8
Improved Outcome Following Busulfan-Based Conditioning in Children with Functional Neutrophil Disorders Undergoing Hematopoietic Stem Cell Transplant from HLA-Matched Donors8
The Latin American Society for Immunodeficiencies Registry8
Double Trouble: Novel Digenic CD19-RABEP2 Deletion in Predominantly Antibody Deficiency with Syndromic Features8
Increased Hazard Risk of First Malignancy in Adults with Undetectable Serum IgE: a Retrospective Cohort Study7
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency7
T and NK Cells in IL2RG-Deficient Patient 50 Years After Hematopoietic Stem Cell Transplantation7
Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan7
COVID-19 Vaccine Uptake and Efficacy in a National Immunodeficiency Cohort7
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis7
Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia7
Correction to: Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome7
Correction to: A Case of Two Adult Brothers with Wiskott‑Aldrich Syndrome, One Treated with Gene Therapy and One with HLA‑Identical Hematopoietic Stem Cell Transplantation7
Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.37
Epidermodysplasia Verruciformis in CADINS Disease: Expanding the Phenotype7
Long-term SARS-CoV-2 Asymptomatic Carriage in an Immunocompromised Host: Clinical, Immunological, and Virological Implications7
Functional STAT3 Deficiency from Co-Localization with SMAD2/3 Can Account for Infective Predisposition and Hyper IgE-like Manifestation in Loeys-Dietz Syndrome7
Disseminated Acanthamoeba Infection in a Bone Marrow Transplant Recipient with CTLA-4 Haploinsufficiency7
Transient Increase of Pre-existing Anti-IFN-α2 Antibodies Induced by SARS-CoV-2 Infection7
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity7
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion7
Isolated Full Donor T-Cell Chimerism After Haploidentical TCRαβ/CD19 Depleted HSCT Maintains Remission of Familial HLH7
Correction to: Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features7
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency7
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis7
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF7
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders7
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility7
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants7
Granulicatella adiacens Bacteremia in Chronic Granulomatous Disease7
Fatal and Unresponsive Cytomegalovirus Infection in a New Homozygous FOXN1 Gene Variation Causing Nude SCID7
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD117
Intravenous Immunoglobulins Promote an Expansion of Monocytic Myeloid-Derived Suppressor Cells (MDSC) in CVID Patients7
Deficiency of Adenosine Deaminase 2—a Monogenic Cause of Wunderlich Syndrome7
Myocarditis in 13-Year-Old Monochorionic Diamniotic Twins After COVID-19 Vaccination7
Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant7
An Immature NK Cell Compartment in Functional DBF4 Deficiency7
The Clinical Significance and Prognostic Role of Whole-Blood Epstein-Barr Virus DNA in Lymphoma-Associated Hemophagocytic Lymphohistiocytosis7
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