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 2021-05-01 to 2025-05-01.)
ArticleCitations
Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases756
Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis323
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections121
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning87
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease82
Tolerability and Safety of Large-Volume Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% Administered with or without Dose Ramp-Up: A Phase 1 Study in Healthy Participants69
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling63
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors—a Report of 2 Cases59
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations59
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients55
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses54
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?53
Unusual Manifestations of APECED52
BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center47
Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity45
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency44
Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort42
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies41
Is There a Clinical Significance of Very Low Serum Immunoglobulin E Level?41
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
Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation37
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis37
Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India36
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility36
Double Trouble: Novel Digenic CD19-RABEP2 Deletion in Predominantly Antibody Deficiency with Syndromic Features34
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home33
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis33
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD1133
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics32
The Latin American Society for Immunodeficiencies Registry31
In Memoriam—Thomas Alexander Waldmann, M.D.30
Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia30
Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies30
Correction to: Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection28
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency28
Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency28
Persistent COVID-19 Infection in Wiskott-Aldrich Syndrome Cleared Following Therapeutic Vaccination: a Case Report27
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis27
22q11.2 Deletion and Duplication Syndromes and COVID-1926
Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma26
Profiling of T Cell Repertoire in SARS-CoV-2-Infected COVID-19 Patients Between Mild Disease and Pneumonia26
Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia24
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients24
Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies23
Recurrent Breast Abscesses in a Female with Autosomal Dominant Hyper-IgE Syndrome23
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population22
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation22
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease22
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome22
Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era21
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency21
A Rare AIOLOS N160S Variant Causing IEI in Human21
Foreword to the English Translation of Kostmann’s Memoirs20
Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies20
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity20
Autoantibodies Neutralizing Type I INFs May Be Associated with Efficacy of Tocilizumab in COVID-19 Pneumonia19
Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic19
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency18
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT218
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis18
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)18
A Novel Kindred with MyD88 Deficiency17
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes17
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family17
Robust Virus-Specific Adaptive Immunity in COVID-19 Patients with SARS-CoV-2 Δ382 Variant Infection17
Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion17
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
Aichivirus: an Emerging Pathogen in Patients with Primary and Secondary B-Cell Deficiency17
Hematopoietic Stem Cell Transplantation in Late-onset X-linked Chronic Granulomatous Disease in a Female Carrier17
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect17
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation16
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease16
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients16
Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency16
B-cell Immunodeficiency in a Patient with Pearson Syndrome16
Antiviral T-Cell Frequencies in a Healthy Population: Reference Values for Evaluating Antiviral Immune Cell Profiles in Immunocompromised Patients16
Killing Two Birds with One Stone: the Therapeutic Role of Ibrutinib in Schnitzler Syndrome16
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
Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report16
The Relationship Between Mucosal Microbiota, Colitis, and Systemic Inflammation in Chronic Granulomatous Disorder15
Antibody Deficiency in Patients with Biallelic KARS1 Mutations15
Correction to: IL-27 is Elevated in Acute Lung Injury and Mediates Inflammation15
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences15
Altered Plasma Fatty Acids Associate with Gut Microbial Composition in Common Variable Immunodeficiency15
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK715
Interstitial Lung Disease in a Girl with Prolidase Deficiency14
Pneumococcal IgG Antibody Responses to 23vPPV in Healthy Controls Using an Automated ELISA14
ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects14
Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency14
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease13
Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globin13
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia13
Chronic Enteroviral Meningoencephalitis in a Patient with Good’s Syndrome Treated with Pocapavir13
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease13
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis13
Hematopoietic Cell Transplant for CD40 Ligand Deficiency—Comparing Busulfan Versus Treosulfan13
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
RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up13
Clinical Features of Female Taiwanese Carriers with X-linked Chronic Granulomatous Disease from 2004 to 201913
Novel ADA2 Variants in a Romanian Case Series of DADA212
Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency12
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy12
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum12
A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults12
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
Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity12
BCG Vaccine–Associated Complications in Patients with PTEN Hamartoma Tumor Syndrome12
Deficiency of Adenosine Deaminase 2 Presenting as Periodic Fever at the Mainland of Familial Mediterranean Fever12
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development12
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency12
Perspective - Was it All for Nothing?11
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant11
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH111
COVID-19 in CVID: a Case Series of 17 Patients11
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis11
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment11
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report11
Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?11
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation11
SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine11
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient11
Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases11
Outcomes of X-Linked Agammaglobulinaemia Patients11
Correction to: Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders11
A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease11
Interferon-α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children11
Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease11
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia11
Psychological Symptoms in Primary Immunodeficiencies: a Common Comorbidity?10
Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency10
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
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase10
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency10
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies10
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity10
First Use of Thymus Transplantation in PAX1 Deficiency10
Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity10
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants10
The Complexity of Being A20: From Biological Functions to Genetic Associations10
Increased Hazard Risk of First Malignancy in Adults with Undetectable Serum IgE: a Retrospective Cohort Study10
Correction to: Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome9
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
Circulating Innate Lymphoid Cells (ILCs) in Healthy Children: Reference Values for Evaluation of Treatment in Immunocompromised Pediatric Patients9
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors9
Clinical and Phenotypic Characterization of Common Variable Immunodeficiency Diagnosed in Younger and Older Adults9
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity9
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
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity9
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
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF9
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population9
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine9
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants9
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti9
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling9
Successful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient8
Interferon Alpha Therapy in MSMD8
Oral Ulcers Resolution Using IL12/23 Blockade in an Infant with Leukocyte Adhesion Deficiency Type 18
Correction to: Hematopoietic Stem Cell Transplantation in late-onset X-linked Chronic Granulomatous Disease in a female carrier8
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis8
Inborn Errors of Immunity—the Sri Lankan Experience 2010–20228
IL-4Rα Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT68
Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency8
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report8
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil8
Correction to: Fatal and Unresponsive Cytomegalovirus Infection in a New Homozygous FOXN1 Gene Variation Causing Nude SCID8
Diagnosis, Characteristics, and Outcome of Selective Anti-polysaccharide Antibody Deficiencies In A Retrospective Cohort of 55 Adult Patients8
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma8
Implementation of a Reference Center for Inborn Errors of Immunity in Latin America8
PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID8
Correction to: Inborn Errors of Immunity on the Island of Ireland — a Cross‑Jurisdictional UKPID/ESID Registry Report8
Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease8
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature8
Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features8
Hematopoietic Stem Cell Transplantation Successfully Treats CD40LG Duplication8
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11)8
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
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia8
STAT 3 GOF with Polycythemia: a Twist to the Tale-First Case Report from India7
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 37
High Inborn Errors of Immunity Risk in Patients with Granuloma7
Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency7
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience7
Inheritance of STING mosaicism in two half-siblings7
Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant7
A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts7
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders7
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
Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans7
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers7
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope7
The Impact of the Russian Invasion on Healthcare of Patient with Inborn Errors of Immunity and on the Professional Activity of Immunologists in Ukraine7
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects7
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation7
“The Regimental Pediatrician”: My Training and Debut in Boden7
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients7
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia7
Low Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality7
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
Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series7
XLA and Recurrent Conjunctivitis: a Unique Association?7
Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI7
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
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency7
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease7
A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA7
Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency Disorders7
Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond7
Seasonal Betacoronavirus Antibodies’ Expansion Post-BNT161b2 Vaccination Associates with Reduced SARS-CoV-2 VoC Neutralization7
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