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Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis
Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis
Cryptococcosis is a potentially life-threatening fungal disease caused by encapsulated yeasts of the genus Cryptococcus, m...
Interferon-α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children
Interferon-α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children
SARS-CoV-2 Omicron variant-infected pediatric patients tend to be younger, and the symptoms ...
Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity
Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human inborn errors of immunity: 202...
Real-World Evidence of Tolerability of 20% Subcutaneous Immunoglobulin Treatment
Real-World Evidence of Tolerability of 20% Subcutaneous Immunoglobulin Treatment
The safety and efficacy of subcutaneous immune globulin 20% (human) solution (Ig20Gly) were demonstrated in clinical trial...
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity
Mixed cryoglobulinemia syndrome (MCs) is a rare immunoproliferative systemic disorder with cutaneous and multiple organ in...
Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
The authors wish to thank the Potentials Foundation, the Walking with Giants Foundation, and all the families who particip...
A Cohort Study on Deficiency of ADA2 from China
A Cohort Study on Deficiency of ADA2 from China
Deficiency of adenosine deaminase 2 (DADA2), an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-...
The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages
The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages
Primary B cell defects manifesting as predominantly antibody deficiencies result from variable inborn errors of the B cell...
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope
Ethics Approval This publication was approved by the Research Ethic...
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2
STAT2 is both an effector and negative regulator of type I interferon (IFN-I) signalling. We describe the characterization...
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications
Duplication of chromosome 22q11.2 due to meiotic non-allelic homologous recombination results in a distinct syndrome, chro...
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)
Sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome...
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11
The authors thank the patients and their families for their participation. The opinions and assertions expressed herein ar...
Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex
Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex
We thank Dr. Ramin Azizimalamiri and Dr. Hamid Galehdari for their help in clinical and molecular characterization. YJC ac...
Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan
Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan
Patients with inborn errors of immunity (IEI) manifest various initial symptoms; however, those that are critical for the ...
Correction to: De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE‑1 Element Insertion Resulting in Chronic Granulomatous Disease
Correction to: De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE‑1 Element Insertion Resulting in Chronic Granulomatous Disease
National Clinical Research Center for Child Health and Disorders (Chongqing), Children’s Hospital of Chongqing Medical Uni...
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
Summarize the characteristics of a large cohort of BCG disease and compare differences in clinical characteristics and out...
Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings
Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings
The case histories and biological material was obtained with informed consent in accordance with the Declaration of Helsin...
STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage
STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage
Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, et al. Activated STING in a vascular and pulmonary syndrome. N...
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thym...
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family
Leukocyte adhesion deficiency-III (LAD-III) is an extremely rare autosomal recessive syndrome caused by mutations in FERMT...
Severe Periodontitis in Adults with Chronic Granulomatous Disease
Severe Periodontitis in Adults with Chronic Granulomatous Disease
We would like to thank the patients and physicians.CONSORTIUM AUTHORSSara Espinosa Padilla1, Jacinta Bustamante2,3,4,5, Ma...
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds
The first molecular evidence of a monogenic predisposition to mycobacteria came from the study of Mendelian susceptibility...
Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency
Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency
All authors contributed to the study conception and design. Data collection and analysis were pe...
Distinct Lymphocyte Immunophenotyping and Quantitative Anti-Interferon Gamma Autoantibodies in Taiwanese HIV-Negative Patients with Non-Tuberculous Mycobacterial Infections
Distinct Lymphocyte Immunophenotyping and Quantitative Anti-Interferon Gamma Autoantibodies in Taiwanese HIV-Negative Patients with Non-Tuberculous Mycobacterial Infections
The presence of anti-interferon-γ autoantibodies (AutoAbs-IFN-γ) is not rare in patients suffering from persiste...
Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening
Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening
Newborn screening (NBS) by quantifying T-cell receptor excision circles (TREC) in dried blood...
Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype
Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype
Originally, Shwachman-Diamond syndrome (SDS) is recognized as a genetic disorder with classic...
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome
Pathogenic FOXP3 variants cause immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, a progressiv...
XLA and Recurrent Conjunctivitis: a Unique Association?
XLA and Recurrent Conjunctivitis: a Unique Association?
Conflict of Interest Dr. Vyanka Redenbaugh reports no relevant disc...
Lupus Vulgaris Revealing an IκBα Gain of Function Variant
Lupus Vulgaris Revealing an IκBα Gain of Function Variant
Ethics Approval Informed consent was obtained from the patient incl...
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