Journal of Clinical Immunology

Papers
(The median citation count of Journal of Clinical Immunology is 3. 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 2021-06-01 to 2025-06-01.)
ArticleCitations
Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases785
Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis337
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections122
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning82
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease71
Tolerability and Safety of Large-Volume Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% Administered with or without Dose Ramp-Up: A Phase 1 Study in Healthy Participants63
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling59
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations56
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients53
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses52
Unusual Manifestations of APECED47
Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity45
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency44
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies43
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency41
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia40
BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center37
2025: Onward and Upward!37
Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort36
Is There a Clinical Significance of Very Low Serum Immunoglobulin E Level?36
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?35
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors—a Report of 2 Cases35
Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation34
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis33
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility32
Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India31
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home30
Double Trouble: Novel Digenic CD19-RABEP2 Deletion in Predominantly Antibody Deficiency with Syndromic Features30
Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies28
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD1128
The Latin American Society for Immunodeficiencies Registry28
Correction to: Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection27
Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency27
In Memoriam—Thomas Alexander Waldmann, M.D.27
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis26
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis25
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics24
Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV24
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency23
Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia23
22q11.2 Deletion and Duplication Syndromes and COVID-1923
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome22
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients22
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population22
Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies22
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation22
Recurrent Breast Abscesses in a Female with Autosomal Dominant Hyper-IgE Syndrome22
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease21
A Rare AIOLOS N160S Variant Causing IEI in Human20
Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era20
Persistent COVID-19 Infection in Wiskott-Aldrich Syndrome Cleared Following Therapeutic Vaccination: a Case Report20
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency20
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity19
Foreword to the English Translation of Kostmann’s Memoirs19
A Novel Kindred with MyD88 Deficiency18
Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic18
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family18
Robust Virus-Specific Adaptive Immunity in COVID-19 Patients with SARS-CoV-2 Δ382 Variant Infection18
Autoantibodies Neutralizing Type I INFs May Be Associated with Efficacy of Tocilizumab in COVID-19 Pneumonia18
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect18
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)18
Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies18
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT217
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes17
Correction to: Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity17
Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia17
Hematopoietic Stem Cell Transplantation in Late-onset X-linked Chronic Granulomatous Disease in a Female Carrier17
Aichivirus: an Emerging Pathogen in Patients with Primary and Secondary B-Cell Deficiency17
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis17
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency17
Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion17
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation16
Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report16
Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life16
Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening16
Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency16
B-cell Immunodeficiency in a Patient with Pearson Syndrome16
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease16
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK715
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients15
Altered Plasma Fatty Acids Associate with Gut Microbial Composition in Common Variable Immunodeficiency15
The Relationship Between Mucosal Microbiota, Colitis, and Systemic Inflammation in Chronic Granulomatous Disorder15
Correction to: IL-27 is Elevated in Acute Lung Injury and Mediates Inflammation15
Antiviral T-Cell Frequencies in a Healthy Population: Reference Values for Evaluating Antiviral Immune Cell Profiles in Immunocompromised Patients15
Antibody Deficiency in Patients with Biallelic KARS1 Mutations15
Killing Two Birds with One Stone: the Therapeutic Role of Ibrutinib in Schnitzler Syndrome15
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences15
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis14
Pneumococcal IgG Antibody Responses to 23vPPV in Healthy Controls Using an Automated ELISA14
Interstitial Lung Disease in a Girl with Prolidase Deficiency14
Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globin14
ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects14
Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency14
Hematopoietic Cell Transplant for CD40 Ligand Deficiency—Comparing Busulfan Versus Treosulfan13
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease13
BCG Vaccine–Associated Complications in Patients with PTEN Hamartoma Tumor Syndrome13
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications13
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease13
Deficiency of Adenosine Deaminase 2 Presenting as Periodic Fever at the Mainland of Familial Mediterranean Fever13
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy13
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia13
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
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease13
Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency12
Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity12
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment12
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient12
Novel ADA2 Variants in a Romanian Case Series of DADA212
Late-Onset Combined Immunodeficiency with Refractory CMV Disease due to ICOSL Deficiency12
Efficacy of Tixagevimab and Cilgavimab Against SARS-CoV-2 Infections in Patients with Inborn Errors of Immunity12
RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up12
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia12
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency12
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum12
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development12
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis12
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant12
Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases11
Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease11
Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?11
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase11
The Complexity of Being A20: From Biological Functions to Genetic Associations11
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH111
Perspective - Was it All for Nothing?11
Outcomes of X-Linked Agammaglobulinaemia Patients11
Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders11
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency11
Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis11
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report11
Interferon-α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children11
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation11
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants11
A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease11
Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency10
COVID-19 in CVID: a Case Series of 17 Patients10
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib10
Transient Increase of Pre-existing Anti-IFN-α2 Antibodies Induced by SARS-CoV-2 Infection10
Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity10
SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine10
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity10
Clinical and Phenotypic Characterization of Common Variable Immunodeficiency Diagnosed in Younger and Older Adults10
Psychological Symptoms in Primary Immunodeficiencies: a Common Comorbidity?10
First Use of Thymus Transplantation in PAX1 Deficiency10
Increased Hazard Risk of First Malignancy in Adults with Undetectable Serum IgE: a Retrospective Cohort Study10
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies10
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil9
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment9
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling9
Circulating Innate Lymphoid Cells (ILCs) in Healthy Children: Reference Values for Evaluation of Treatment in Immunocompromised Pediatric Patients9
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population9
A Novel Point-of-Care Rapid Diagnostic Test for Screening Individuals for Antibody Deficiencies9
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
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors9
Correction to: Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features9
Correction to: Vaccination for Patients with Inborn Errors of Immunity: A Nationwide Survey in Japan9
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF9
Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI)9
Mosaicism in Two Patients with COPA Syndrome9
Correction to: Hematopoietic Stem Cell Transplantation in late-onset X-linked Chronic Granulomatous Disease in a female carrier9
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants9
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine9
Correction to: Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome9
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity9
AIOLOS-Associated Inborn Errors of Immunity9
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity9
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti9
Interferon Alpha Therapy in MSMD8
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia8
PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID8
Oral Ulcers Resolution Using IL12/23 Blockade in an Infant with Leukocyte Adhesion Deficiency Type 18
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report8
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort8
Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency8
Implementation of a Reference Center for Inborn Errors of Immunity in Latin America8
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature8
Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease8
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma8
Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency Disorders8
From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity8
Correction to: Inborn Errors of Immunity on the Island of Ireland — a Cross‑Jurisdictional UKPID/ESID Registry Report8
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11)8
Inborn Errors of Immunity—the Sri Lankan Experience 2010–20228
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis8
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia8
Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant8
Successful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient8
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients8
Correction to: Fatal and Unresponsive Cytomegalovirus Infection in a New Homozygous FOXN1 Gene Variation Causing Nude SCID8
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience7
Hematopoietic Stem Cell Transplantation Successfully Treats CD40LG Duplication7
A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts7
The Impact of the Russian Invasion on Healthcare of Patient with Inborn Errors of Immunity and on the Professional Activity of Immunologists in Ukraine7
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 37
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers7
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders7
Severe Tick-Borne Encephalitis (TBE) in a Patient with X-Linked Agammaglobulinemia; Treatment with TBE Virus IgG Positive Plasma, Clinical Outcome and T Cell Responses7
A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA7
Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI7
Low Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality7
XLA and Recurrent Conjunctivitis: a Unique Association?7
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease7
IL-4Rα Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT67
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation7
Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation7
STAT 3 GOF with Polycythemia: a Twist to the Tale-First Case Report from India7
Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency7
Elevated CD21low B Cell Frequency Is a Marker of Poor Immunity to Pfizer-BioNTech BNT162b2 mRNA Vaccine Against SARS-CoV-2 in Patients with Common Variable Immunodeficiency7
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia7
Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond7
Chest Computed Tomography Characteristics of Critically Ill COVID-19 Patients with Auto-antibodies Against Type I Interferons7
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients7
Inheritance of STING mosaicism in two half-siblings7
“The Regimental Pediatrician”: My Training and Debut in Boden7
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects7
Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series7
Seasonal Betacoronavirus Antibodies’ Expansion Post-BNT161b2 Vaccination Associates with Reduced SARS-CoV-2 VoC Neutralization7
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency7
High Inborn Errors of Immunity Risk in Patients with Granuloma7
Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans7
Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID7
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope7
Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency7
PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype6
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 France6
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns6
Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes6
Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome6
Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases6
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features6
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 Report6
Correction to: A Multi-center, Open-Label, Single-Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency6
Immunologic Control of Disseminated Aichi Virus Infection in X-Linked Agammaglobulinemia by Transplantation of TcRαβ-Depleted Haploidentical Hematopoietic Cells6
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK86
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 Under6
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 Literat6
Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity6
SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency6
Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort6
Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control6
BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening6
A Three-Step Screening Procedure for Early Identification of Children at High Risk of Hemophagocytic Lymphohistiocytosis6
Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency6
Levels of Natural Antibodies Before and After Immunoglobulin Replacement Treatment Affect the Clinical Phenotype in Common Variable Immunodeficiency6
Novel NF-kappa B Inhibitor Alpha Gain-of-Function Variant in an Infant with Lymphocytosis and Recurrent Serratia Bacteremia6
First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency6
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency6
Anifrolumab in Monogenic Lupus caused by TREX1 Mutation6
Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin6
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