Journal of Clinical Immunology

Papers
(The TQCC of Journal of Clinical Immunology is 7. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-11-01 to 2025-11-01.)
ArticleCitations
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses906
Unusual Manifestations of APECED382
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections60
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning54
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients54
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease53
Tolerability and Safety of Large-Volume Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% Administered with or without Dose Ramp-Up: A Phase 1 Study in Healthy Participants47
Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort43
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies41
Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score41
Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity40
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling36
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors—a Report of 2 Cases36
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?32
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency31
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency31
2025: Onward and Upward!31
Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases31
Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity30
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia30
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations29
Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis29
Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation28
Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV28
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics28
Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies28
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility27
In Memoriam—Thomas Alexander Waldmann, M.D.27
Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India27
Double Trouble: Novel Digenic CD19-RABEP2 Deletion in Predominantly Antibody Deficiency with Syndromic Features26
Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study26
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home25
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD1125
The Latin American Society for Immunodeficiencies Registry24
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency23
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis22
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis22
Recurrent Breast Abscesses in a Female with Autosomal Dominant Hyper-IgE Syndrome21
Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies21
The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection21
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population20
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
Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia20
A Rare AIOLOS N160S Variant Causing IEI in Human20
Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era19
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome19
22q11.2 Deletion and Duplication Syndromes and COVID-1919
A Novel Hypomorphic STAT3 Gene Variant in a 7-year-old Male with Hyper-IgE Syndrome19
Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies18
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity18
Autoantibodies Neutralizing Type I INFs May Be Associated with Efficacy of Tocilizumab in COVID-19 Pneumonia18
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease18
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency17
Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic17
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency17
Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia17
Foreword to the English Translation of Kostmann’s Memoirs17
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family17
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT217
A Novel Kindred with MyD88 Deficiency17
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect17
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)17
Correction to: Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity16
Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency16
Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion16
Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life16
Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort16
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis16
B-cell Immunodeficiency in a Patient with Pearson Syndrome16
Antibody Deficiency in Patients with Biallelic KARS1 Mutations15
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease15
Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening15
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation15
The Relationship Between Mucosal Microbiota, Colitis, and Systemic Inflammation in Chronic Granulomatous Disorder15
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients15
Hematopoietic Stem Cell Transplantation in Late-onset X-linked Chronic Granulomatous Disease in a Female Carrier15
Aichivirus: an Emerging Pathogen in Patients with Primary and Secondary B-Cell Deficiency15
Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report15
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences14
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease14
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease14
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights14
Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency14
Interstitial Lung Disease in a Girl with Prolidase Deficiency14
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes14
Correction to: IL-27 is Elevated in Acute Lung Injury and Mediates Inflammation14
Antiviral T-Cell Frequencies in a Healthy Population: Reference Values for Evaluating Antiviral Immune Cell Profiles in Immunocompromised Patients14
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia14
Successful Treatment of Skin Dyskeratosis Due To NLRP1 Mutation Using Baricitinib13
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
Efficacy of Tixagevimab and Cilgavimab Against SARS-CoV-2 Infections in Patients with Inborn Errors of Immunity13
Novel ADA2 Variants in a Romanian Case Series of DADA212
Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globin12
β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies12
Identification of Potential Therapeutic Agents for Type I Interferonopathy Using iPSC-Based Disease Modeling12
Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity12
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency12
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications12
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis12
ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects12
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum12
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment12
Hematopoietic Cell Transplant for CD40 Ligand Deficiency—Comparing Busulfan Versus Treosulfan12
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development12
RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up12
A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults12
Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency11
Perspective - Was it All for Nothing?11
Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders11
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency11
Pneumococcal IgG Antibody Responses to 23vPPV in Healthy Controls Using an Automated ELISA11
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report11
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant11
A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID11
Chronic Enteroviral Meningoencephalitis in a Patient with Good’s Syndrome Treated with Pocapavir11
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia11
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
Correction to: Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features10
SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine10
Pilot Study of Anti-PD-1 Antibody Combined with L-DEP Regimens in the Treatment of Relapsed/Refractory EBV-HLH in Children10
Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity10
First Use of Thymus Transplantation in PAX1 Deficiency10
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies10
Psychological Symptoms in Primary Immunodeficiencies: a Common Comorbidity?10
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity10
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants10
Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency10
Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis10
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation10
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH110
Interferon-α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children10
Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases10
Correction to: Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome10
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis10
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase10
Outcomes of X-Linked Agammaglobulinaemia Patients10
A Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793 C > T in CASP8 Gene10
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient10
The Complexity of Being A20: From Biological Functions to Genetic Associations10
A Novel Point-of-Care Rapid Diagnostic Test for Screening Individuals for Antibody Deficiencies9
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment9
Disseminated Histoplasmosis in Very Early Diagnosed De Novo STAT3-HIES9
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity9
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population9
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity9
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib9
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors9
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants9
Mosaicism in Two Patients with COPA Syndrome9
Increased Hazard Risk of First Malignancy in Adults with Undetectable Serum IgE: a Retrospective Cohort Study9
Circulating Innate Lymphoid Cells (ILCs) in Healthy Children: Reference Values for Evaluation of Treatment in Immunocompromised Pediatric Patients9
Correction to: Vaccination for Patients with Inborn Errors of Immunity: A Nationwide Survey in Japan9
Transient Increase of Pre-existing Anti-IFN-α2 Antibodies Induced by SARS-CoV-2 Infection9
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine9
Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis9
Clinical and Phenotypic Characterization of Common Variable Immunodeficiency Diagnosed in Younger and Older Adults9
AIOLOS-Associated Inborn Errors of Immunity9
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
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling9
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF9
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil8
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis8
Oral Ulcers Resolution Using IL12/23 Blockade in an Infant with Leukocyte Adhesion Deficiency Type 18
Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease8
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report8
Correction to: Inborn Errors of Immunity on the Island of Ireland — a Cross‑Jurisdictional UKPID/ESID Registry Report8
PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID8
Diagnosis, Characteristics, and Outcome of Selective Anti-polysaccharide Antibody Deficiencies In A Retrospective Cohort of 55 Adult Patients8
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia8
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature8
Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant8
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11)8
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients8
IL-4Rα Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT68
From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity8
Correction to: Fatal and Unresponsive Cytomegalovirus Infection in a New Homozygous FOXN1 Gene Variation Causing Nude SCID8
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma8
Correction to: Hematopoietic Stem Cell Transplantation in late-onset X-linked Chronic Granulomatous Disease in a female carrier8
Successful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient8
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort8
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia8
Interferon Alpha Therapy in MSMD8
Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency8
A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts8
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti8
Inborn Errors of Immunity—the Sri Lankan Experience 2010–20228
Implementation of a Reference Center for Inborn Errors of Immunity in Latin America8
A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT18
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers7
The Impact of the Russian Invasion on Healthcare of Patient with Inborn Errors of Immunity and on the Professional Activity of Immunologists in Ukraine7
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
STAT 3 GOF with Polycythemia: a Twist to the Tale-First Case Report from India7
Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond7
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 37
Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency7
Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency Disorders7
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope7
Antisynthetase Syndrome during anti-TNF-alpha Therapy: Report of Two Cases7
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects7
Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans7
Chest Computed Tomography Characteristics of Critically Ill COVID-19 Patients with Auto-antibodies Against Type I Interferons7
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency7
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia7
Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI7
XLA and Recurrent Conjunctivitis: a Unique Association?7
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients7
Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features7
Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency7
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation7
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
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders7
High Inborn Errors of Immunity Risk in Patients with Granuloma7
Inheritance of STING mosaicism in two half-siblings7
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience7
Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series7
Low Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality7
“The Regimental Pediatrician”: My Training and Debut in Boden7
Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID7
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease7
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