Journal of Clinical Immunology

Article	Citations
Unusual Manifestations of APECED	454
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections	76
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients	54
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors—a Report of 2 Cases	52
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency	47
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling	47
2025: Onward and Upward!	45
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease	45
Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases	44
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning	40
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia	39
Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis	36
Tolerability and Safety of Large-Volume Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% Administered with or without Dose Ramp-Up: A Phase 1 Study in Healthy Participants	31
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies	31
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses	30
Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity	30
Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score	29
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?	28
Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity	26
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency	25
Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies	24
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11	23
Double Trouble: Novel Digenic CD19-RABEP2 Deletion in Predominantly Antibody Deficiency with Syndromic Features	23
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility	23
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis	22

The Latin American Society for Immunodeficiencies Registry	22
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis	22
Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV	22
Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia	21
Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies	21
Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study	21
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home	21
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome	21
A Novel Hypomorphic STAT3 Gene Variant in a 7-year-old Male with Hyper-IgE Syndrome	21
A Rare AIOLOS N160S Variant Causing IEI in Human	21
Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India	21
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population	20
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation	20
Correction to: Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis	20
The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection	20
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease	20
Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort	19
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family	19
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity	19
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect	19
Foreword to the English Translation of Kostmann’s Memoirs	19
Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic	19
The Spectrum of Bacterial Infection in a Large Cohort of Chinese Pediatric Patients with Inborn Errors of Immunity: A Nine-year, Retrospective, Single-center Study	18
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency	18
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency	18
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2	18
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)	18
Fungal Infections – a Stealthy Enemy in Patients with Chronic Granulomatous Disease: a 28-years’ Experience from North India	18
STAT-1 gain-of-function CMC: Remission of Oral Candidiasis during PD-1 Inhibitor Treatment of Oral Cancer	18
Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency	17
Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life	17
Antibody Deficiency in Patients with Biallelic KARS1 Mutations	17
Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion	17
Correction to: Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity	17
JAK Inhibition in STAT1 Gain-of-Function-Associated Histoplasmosis and HLH	17
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis	17
B-cell Immunodeficiency in a Patient with Pearson Syndrome	17
Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening	17
Aichivirus: an Emerging Pathogen in Patients with Primary and Secondary B-Cell Deficiency	16
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease	16
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights	16
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy	15
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia	15
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences	15
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease	15
Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report	15
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease	15
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease	15
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients	15
Efficacy of Tixagevimab and Cilgavimab Against SARS-CoV-2 Infections in Patients with Inborn Errors of Immunity	14

Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency	14
Interstitial Lung Disease in a Girl with Prolidase Deficiency	14
Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity	14
Novel ADA2 Variants in a Romanian Case Series of DADA2	14
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency	14
Identification of Potential Therapeutic Agents for Type I Interferonopathy Using iPSC-Based Disease Modeling	14
ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects	14
A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults	14
Successful Treatment of Skin Dyskeratosis Due To NLRP1 Mutation Using Baricitinib	14
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment	14
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications	13
Correction to: IL-27 is Elevated in Acute Lung Injury and Mediates Inflammation	13
RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up	13
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum	13
Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globin	13
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis	13
Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency	13
Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders	12
Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis	12
First Use of Thymus Transplantation in PAX1 Deficiency	12
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis	12
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1	12
β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies	12
Interferon-α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children	12
A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID	12
A Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793 C > T in CASP8 Gene	12
Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?	12
Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases	12
Perspective - Was it All for Nothing?	12
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development	12
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant	12
Outcomes of X-Linked Agammaglobulinaemia Patients	12
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants	12
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation	12
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency	12
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase	12
Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease	12
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient	11
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report	11
Increased Hazard Risk of First Malignancy in Adults with Undetectable Serum IgE: a Retrospective Cohort Study	11
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors	11
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity	11
Pilot Study of Anti-PD-1 Antibody Combined with L-DEP Regimens in the Treatment of Relapsed/Refractory EBV-HLH in Children	11
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 Mainten	11
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine	11
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment	11
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib	11
The Complexity of Being A20: From Biological Functions to Genetic Associations	11
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia	11
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity	11
Disseminated Histoplasmosis in Very Early Diagnosed De Novo STAT3-HIES	11
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity	11
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population	11
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature	10
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report	10
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants	10
Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis	10
Implementation of a Reference Center for Inborn Errors of Immunity in Latin America	10
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia	10
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia	10
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti	10
From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity	10
Correction to: Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features	10
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
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF	10
Successful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient	10
Correction to: Hematopoietic Stem Cell Transplantation in late-onset X-linked Chronic Granulomatous Disease in a female carrier	10
IL-4Rα Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT6	10
Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency	10
Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review	10
AIOLOS-Associated Inborn Errors of Immunity	10
Mosaicism in Two Patients with COPA Syndrome	10
Diagnosis, Characteristics, and Outcome of Selective Anti-polysaccharide Antibody Deficiencies In A Retrospective Cohort of 55 Adult Patients	10
Inborn Errors of Immunity—the Sri Lankan Experience 2010–2022	10
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis	9
A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1	9
Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency	9
Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond	9
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation	9
Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency	9

XLA and Recurrent Conjunctivitis: a Unique Association?	9
Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant	9
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11)	9
Interferon Alpha Therapy in MSMD	9
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience	9
Inheritance of STING mosaicism in two half-siblings	9
Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series	9
Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI	9
“The Regimental Pediatrician”: My Training and Debut in Boden	9
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure	9
PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID	9
Antisynthetase Syndrome during anti-TNF-alpha Therapy: Report of Two Cases	9
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3	9
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency	9
Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID	9
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope	9
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma	9
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort	9
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients	9