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 2022-05-01 to 2026-05-01.)
ArticleCitations
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses1004
Unusual Manifestations of APECED430
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections68
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients50
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling43
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
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?40
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors—a Report of 2 Cases40
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations40
Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis39
Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score38
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency37
2025: Onward and Upward!36
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning34
Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity34
Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity33
Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases33
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease28
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency28
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia28
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies28
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency27
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility25
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis23
Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies23
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home23
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD1123
Double Trouble: Novel Digenic CD19-RABEP2 Deletion in Predominantly Antibody Deficiency with Syndromic Features23
Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India22
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis22
Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study21
A Rare AIOLOS N160S Variant Causing IEI in Human21
Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies21
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome21
The Latin American Society for Immunodeficiencies Registry21
Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV21
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population20
A Novel Hypomorphic STAT3 Gene Variant in a 7-year-old Male with Hyper-IgE Syndrome20
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation20
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 Disease19
Autoantibodies Neutralizing Type I INFs May Be Associated with Efficacy of Tocilizumab in COVID-19 Pneumonia19
The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection19
Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia19
Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic19
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)18
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect18
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity18
Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies18
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family18
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis17
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency17
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency17
Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion17
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT217
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
STAT-1 gain-of-function CMC: Remission of Oral Candidiasis during PD-1 Inhibitor Treatment of Oral Cancer17
Foreword to the English Translation of Kostmann’s Memoirs17
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
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients16
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation16
Aichivirus: an Emerging Pathogen in Patients with Primary and Secondary B-Cell Deficiency16
B-cell Immunodeficiency in a Patient with Pearson Syndrome16
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes16
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease16
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
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences16
Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life15
Correction to: Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity15
Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening15
Antibody Deficiency in Patients with Biallelic KARS1 Mutations15
JAK Inhibition in STAT1 Gain-of-Function-Associated Histoplasmosis and HLH15
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia15
Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report15
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights15
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease15
Novel ADA2 Variants in a Romanian Case Series of DADA214
RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up14
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications14
Efficacy of Tixagevimab and Cilgavimab Against SARS-CoV-2 Infections in Patients with Inborn Errors of Immunity14
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
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease14
Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency14
Correction to: IL-27 is Elevated in Acute Lung Injury and Mediates Inflammation14
Deficiency of Adenosine Deaminase 2 Presenting as Periodic Fever at the Mainland of Familial Mediterranean Fever14
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum13
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development13
Interstitial Lung Disease in a Girl with Prolidase Deficiency13
Chronic Enteroviral Meningoencephalitis in a Patient with Good’s Syndrome Treated with Pocapavir13
A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults13
Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency13
ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects13
Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globin13
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency13
Successful Treatment of Skin Dyskeratosis Due To NLRP1 Mutation Using Baricitinib13
Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity13
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report12
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH112
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
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency12
β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies12
Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease12
The Complexity of Being A20: From Biological Functions to Genetic Associations12
Interferon-α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children12
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant12
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment12
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation12
Perspective - Was it All for Nothing?12
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies12
Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases12
Identification of Potential Therapeutic Agents for Type I Interferonopathy Using iPSC-Based Disease Modeling12
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient11
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia11
Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders11
Outcomes of X-Linked Agammaglobulinaemia Patients11
First Use of Thymus Transplantation in PAX1 Deficiency11
Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity11
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 Mainten11
Pilot Study of Anti-PD-1 Antibody Combined with L-DEP Regimens in the Treatment of Relapsed/Refractory EBV-HLH in Children11
Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis11
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity11
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants11
A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID11
Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?11
A Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793 C > T in CASP8 Gene11
Circulating Innate Lymphoid Cells (ILCs) in Healthy Children: Reference Values for Evaluation of Treatment in Immunocompromised Pediatric Patients10
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
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment10
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity10
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF10
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity10
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine10
Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis10
Mosaicism in Two Patients with COPA Syndrome10
AIOLOS-Associated Inborn Errors of Immunity10
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling10
Implementation of a Reference Center for Inborn Errors of Immunity in Latin America10
Increased Hazard Risk of First Malignancy in Adults with Undetectable Serum IgE: a Retrospective Cohort Study10
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population10
Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review10
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib10
Clinical and Phenotypic Characterization of Common Variable Immunodeficiency Diagnosed in Younger and Older Adults10
Correction to: Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features10
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors10
Disseminated Histoplasmosis in Very Early Diagnosed De Novo STAT3-HIES10
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants10
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort9
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia9
Correction to: Inborn Errors of Immunity on the Island of Ireland — a Cross‑Jurisdictional UKPID/ESID Registry Report9
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report9
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients9
Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency9
Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features9
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11)9
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia9
Correction to: Hematopoietic Stem Cell Transplantation in late-onset X-linked Chronic Granulomatous Disease in a female carrier9
Successful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient9
PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID9
From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity9
Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant9
Interferon Alpha Therapy in MSMD9
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti9
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil9
Inborn Errors of Immunity—the Sri Lankan Experience 2010–20229
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature9
Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease9
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis9
A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT19
Diagnosis, Characteristics, and Outcome of Selective Anti-polysaccharide Antibody Deficiencies In A Retrospective Cohort of 55 Adult Patients9
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma9
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders8
Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans8
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
Inheritance of STING mosaicism in two half-siblings8
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 38
“The Regimental Pediatrician”: My Training and Debut in Boden8
Immunologic Control of Disseminated Aichi Virus Infection in X-Linked Agammaglobulinemia by Transplantation of TcRαβ-Depleted Haploidentical Hematopoietic Cells8
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers8
A Three-Step Screening Procedure for Early Identification of Children at High Risk of Hemophagocytic Lymphohistiocytosis8
Distinct Lymphocyte Immunophenotyping and Quantitative Anti-Interferon Gamma Autoantibodies in Taiwanese HIV-Negative Patients with Non-Tuberculous Mycobacterial Infections8
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure8
Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency8
High Inborn Errors of Immunity Risk in Patients with Granuloma8
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease8
IL-4Rα Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT68
XLA and Recurrent Conjunctivitis: a Unique Association?8
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation8
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency8
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome8
Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency8
Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond8
Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID8
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia8
Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency8
The Impact of the Russian Invasion on Healthcare of Patient with Inborn Errors of Immunity and on the Professional Activity of Immunologists in Ukraine8
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience8
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope8
Chest Computed Tomography Characteristics of Critically Ill COVID-19 Patients with Auto-antibodies Against Type I Interferons8
Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI8
Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency8
Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series8
Antisynthetase Syndrome during anti-TNF-alpha Therapy: Report of Two Cases8
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency7
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
Monocyte/macrophage-derived NLRP3 Promotes the Onset and Progression of Ankylosing Spondylitis Via the NOD-like Receptor Pathway7
Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series7
BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening7
First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency7
SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency7
Anifrolumab in Monogenic Lupus caused by TREX1 Mutation7
Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control7
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features7
Levels of Natural Antibodies Before and After Immunoglobulin Replacement Treatment Affect the Clinical Phenotype in Common Variable Immunodeficiency7
Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome7
Health Care Utilisation in a Cohort of Patients with Primary and Secondary Antibody Deficiency in the United Kingdom7
Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review7
Novel NF-kappa B Inhibitor Alpha Gain-of-Function Variant in an Infant with Lymphocytosis and Recurrent Serratia Bacteremia7
Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort7
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
Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations7
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease7
Neutrophil Activation and Immune Thrombosis Profiles Persist in Convalescent COVID-197
MDA5 gain-of-function associated with a Glu794del mutation7
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns7
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 France7
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan7
Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency7
Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin7
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
Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity7
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC7
Correction to: Anifrolumab in Monogenic Lupus caused by TREX1 Mutation6
CXCL13 as a Biomarker of Complex Common Variable Immunodeficiency6
IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency6
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry6
Clinical Validation of a Primary Antibody Deficiency Screening Algorithm for Primary Care6
Abnormal Immune Profile in Individuals with Kabuki Syndrome6
Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis6
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome6
Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection6
Molecular Assessment of Staphylococcus Aureus Strains in STAT3 Hyper-IgE Syndrome Patients6
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
Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes6
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations6
Infection and Vaccine Induced Spike Antibody Responses Against SARS-CoV-2 Variants of Concern in COVID-19-Naïve Children and Adults6
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