Journal of Clinical Immunology

Papers
(The median citation count of Journal of Clinical Immunology is 4. 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 2022-06-01 to 2026-06-01.)
ArticleCitations
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses1018
Unusual Manifestations of APECED435
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections70
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients51
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors—a Report of 2 Cases44
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling43
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?43
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency41
Tolerability and Safety of Large-Volume Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% Administered with or without Dose Ramp-Up: A Phase 1 Study in Healthy Participants41
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies41
Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis39
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease38
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia36
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency34
Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases33
2025: Onward and Upward!33
Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score30
Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity29
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning29
Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity28
Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies27
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility25
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency25
Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India24
Double Trouble: Novel Digenic CD19-RABEP2 Deletion in Predominantly Antibody Deficiency with Syndromic Features24
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis23
Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV23
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD1123
Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study22
The Latin American Society for Immunodeficiencies Registry21
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome21
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home21
Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies21
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation21
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis21
A Rare AIOLOS N160S Variant Causing IEI in Human21
Correction to: Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis20
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease20
Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia20
A Novel Hypomorphic STAT3 Gene Variant in a 7-year-old Male with Hyper-IgE Syndrome20
The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection19
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population19
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect19
Autoantibodies Neutralizing Type I INFs May Be Associated with Efficacy of Tocilizumab in COVID-19 Pneumonia19
Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic19
STAT-1 gain-of-function CMC: Remission of Oral Candidiasis during PD-1 Inhibitor Treatment of Oral Cancer18
Foreword to the English Translation of Kostmann’s Memoirs18
Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies18
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)18
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family18
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity18
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT218
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis17
Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion17
Fungal Infections – a Stealthy Enemy in Patients with Chronic Granulomatous Disease: a 28-years’ Experience from North India17
Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort17
B-cell Immunodeficiency in a Patient with Pearson Syndrome17
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency17
The Spectrum of Bacterial Infection in a Large Cohort of Chinese Pediatric Patients with Inborn Errors of Immunity: A Nine-year, Retrospective, Single-center Study17
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency17
Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life16
Aichivirus: an Emerging Pathogen in Patients with Primary and Secondary B-Cell Deficiency16
JAK Inhibition in STAT1 Gain-of-Function-Associated Histoplasmosis and HLH16
Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report16
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights16
Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency16
Hematopoietic Stem Cell Transplantation in Late-onset X-linked Chronic Granulomatous Disease in a Female Carrier16
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia15
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients15
Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening15
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences15
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease15
Correction to: Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity15
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease15
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes15
Antibody Deficiency in Patients with Biallelic KARS1 Mutations15
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy14
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease14
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis14
Efficacy of Tixagevimab and Cilgavimab Against SARS-CoV-2 Infections in Patients with Inborn Errors of Immunity14
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease14
Correction to: IL-27 is Elevated in Acute Lung Injury and Mediates Inflammation14
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications14
Deficiency of Adenosine Deaminase 2 Presenting as Periodic Fever at the Mainland of Familial Mediterranean Fever14
Novel ADA2 Variants in a Romanian Case Series of DADA214
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum14
Interstitial Lung Disease in a Girl with Prolidase Deficiency13
Chronic Enteroviral Meningoencephalitis in a Patient with Good’s Syndrome Treated with Pocapavir13
Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency13
Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity13
RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up13
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency13
Identification of Potential Therapeutic Agents for Type I Interferonopathy Using iPSC-Based Disease Modeling13
ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects13
A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults13
Successful Treatment of Skin Dyskeratosis Due To NLRP1 Mutation Using Baricitinib13
β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies13
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development12
Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease12
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency12
First Use of Thymus Transplantation in PAX1 Deficiency12
Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases12
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia12
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment12
Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globin12
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation12
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase12
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis12
Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity12
A Multicentric Clinical Study to Evaluate Pharmacokinetics, Efficacy, and Safety of Immune Globulin Subcutaneous 20% Weekly/Biweekly Dosing in Treatment-Experienced Patients and Loading/Weekly Mainten12
Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency12
Perspective - Was it All for Nothing?12
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH112
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report12
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant12
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants12
Interferon-α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children12
A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID11
Outcomes of X-Linked Agammaglobulinaemia Patients11
Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?11
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling11
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient11
A Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793 C > T in CASP8 Gene11
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity11
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment11
Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis11
Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders11
Pilot Study of Anti-PD-1 Antibody Combined with L-DEP Regimens in the Treatment of Relapsed/Refractory EBV-HLH in Children11
Correction to: Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features11
The Complexity of Being A20: From Biological Functions to Genetic Associations11
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF10
Mosaicism in Two Patients with COPA Syndrome10
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors10
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population10
Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI)10
Inborn Errors of Immunity—the Sri Lankan Experience 2010–202210
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib10
Increased Hazard Risk of First Malignancy in Adults with Undetectable Serum IgE: a Retrospective Cohort Study10
Disseminated Histoplasmosis in Very Early Diagnosed De Novo STAT3-HIES10
Circulating Innate Lymphoid Cells (ILCs) in Healthy Children: Reference Values for Evaluation of Treatment in Immunocompromised Pediatric Patients10
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants10
Implementation of a Reference Center for Inborn Errors of Immunity in Latin America10
Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review10
AIOLOS-Associated Inborn Errors of Immunity10
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity10
Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis10
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine10
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity10
Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease10
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report9
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis9
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia9
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort9
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil9
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti9
Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant9
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11)9
Correction to: Inborn Errors of Immunity on the Island of Ireland — a Cross‑Jurisdictional UKPID/ESID Registry Report9
Successful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient9
Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency9
IL-4Rα Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT69
Diagnosis, Characteristics, and Outcome of Selective Anti-polysaccharide Antibody Deficiencies In A Retrospective Cohort of 55 Adult Patients9
Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features9
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia9
PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID9
Correction to: Hematopoietic Stem Cell Transplantation in late-onset X-linked Chronic Granulomatous Disease in a female carrier9
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature9
A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT19
Interferon Alpha Therapy in MSMD9
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma9
From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity9
Immunologic Control of Disseminated Aichi Virus Infection in X-Linked Agammaglobulinemia by Transplantation of TcRαβ-Depleted Haploidentical Hematopoietic Cells8
Both Humoral and Cellular Immune Responses to SARS-CoV-2 Are Essential to Prevent Infection: a Prospective Study in a Working Vaccinated Population from Southern France8
Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID8
Severe Tick-Borne Encephalitis (TBE) in a Patient with X-Linked Agammaglobulinemia; Treatment with TBE Virus IgG Positive Plasma, Clinical Outcome and T Cell Responses8
Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review8
Health Care Utilisation in a Cohort of Patients with Primary and Secondary Antibody Deficiency in the United Kingdom8
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation8
Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI8
Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency8
Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series8
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure8
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients8
Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency8
The Impact of the Russian Invasion on Healthcare of Patient with Inborn Errors of Immunity and on the Professional Activity of Immunologists in Ukraine8
Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans8
Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond8
Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series8
Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency8
Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency8
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency8
Inheritance of STING mosaicism in two half-siblings8
XLA and Recurrent Conjunctivitis: a Unique Association?8
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders8
“The Regimental Pediatrician”: My Training and Debut in Boden8
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia8
BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening8
High Inborn Errors of Immunity Risk in Patients with Granuloma8
Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency8
MDA5 gain-of-function associated with a Glu794del mutation8
A Three-Step Screening Procedure for Early Identification of Children at High Risk of Hemophagocytic Lymphohistiocytosis8
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience8
Chest Computed Tomography Characteristics of Critically Ill COVID-19 Patients with Auto-antibodies Against Type I Interferons8
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope8
Antisynthetase Syndrome during anti-TNF-alpha Therapy: Report of Two Cases8
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 38
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease8
Inborn Errors of Immunity and Efforts to Diagnose Affected Children in the Absence of Training and Specialty Practice in Clinical Immunology in Ethiopia: a Brief Report7
Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine7
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease7
Novel NF-kappa B Inhibitor Alpha Gain-of-Function Variant in an Infant with Lymphocytosis and Recurrent Serratia Bacteremia7
Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations7
Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under7
Levels of Natural Antibodies Before and After Immunoglobulin Replacement Treatment Affect the Clinical Phenotype in Common Variable Immunodeficiency7
Monocyte/macrophage-derived NLRP3 Promotes the Onset and Progression of Ankylosing Spondylitis Via the NOD-like Receptor Pathway7
First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency7
SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency7
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features7
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX7
Neutrophil Activation and Immune Thrombosis Profiles Persist in Convalescent COVID-197
Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity7
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency7
Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort7
Anifrolumab in Monogenic Lupus caused by TREX1 Mutation7
Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome7
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan7
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers7
Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control7
Steroid-Responsive Pulmonary Hypertension in a Pediatric Patient with Chronic Granulomatous Disease and Histoplasmosis7
“The Regimental Paediatrician”: the New Children’s Hospital7
Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection7
Deepening Understanding of the Clinical Features and Diagnostic Approaches to Anti-Interferon-Gamma Autoantibody Associated Adult-Onset Immunodeficiency in the Last 20 Years: A Case Report and Literat7
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC7
Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin7
Distinct Lymphocyte Immunophenotyping and Quantitative Anti-Interferon Gamma Autoantibodies in Taiwanese HIV-Negative Patients with Non-Tuberculous Mycobacterial Infections7
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns7
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome7
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion6
Functional STAT3 Deficiency from Co-Localization with SMAD2/3 Can Account for Infective Predisposition and Hyper IgE-like Manifestation in Loeys-Dietz Syndrome6
Molecular Assessment of Staphylococcus Aureus Strains in STAT3 Hyper-IgE Syndrome Patients6
Clinical Validation of a Primary Antibody Deficiency Screening Algorithm for Primary Care6
Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection6
Abnormal Immune Profile in Individuals with Kabuki Syndrome6
Granulicatella adiacens Bacteremia in Chronic Granulomatous Disease6
A Cohort Study on Deficiency of ADA2 from China6
Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis6
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 Türk6
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations6
Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes6
Correction to: Anifrolumab in Monogenic Lupus caused by TREX1 Mutation6
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