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Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency
Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency
TRAF3, a versatile adaptor protein within the TRAF family, participates in various signaling pathways involving the tumor ...
A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs
A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs
We studied a family with three male individuals across two generations affected by common variable immune deficiency (CVID...
Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children
Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children
Multisystem inflammatory syndrome in children (MIS-C) has been reported in patients with inborn errors of immunity (IEI), ...
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency
Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotox...
Nationwide Survey of Multisystem Inflammatory Syndrome in Children Associated with Coronavirus Disease 2019 in Japan
Nationwide Survey of Multisystem Inflammatory Syndrome in Children Associated with Coronavirus Disease 2019 in Japan
Multisystem inflammatory syndrome in children (MIS-C) presents some clinical overlap with Kawasaki disease (KD). Although ...
Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency
Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency
Hereditary pulmonary alveolar proteinosis (hPAP) is a rare lung-related primary immunodeficiency. In hPAP, variants of gen...
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency
G6PC3 deficiency is a monogenic immunometabolic disorder that causes severe congenital neutropenia type 4. Patien...
Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy
Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy
TREX1 mutations underlie a variety of human diseases, including retinal vasculopathy with cerebral leukoencephalopathy (RV...
A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms
A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms
Anterior gradient 2 (AGR2) is a protein disulfide isomerase that is important for protein processing in the endoplasmic re...
Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care
Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care
Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflamma...
Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era
Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era
Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the ...
Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series
Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series
Inborn errors of immunity (IEI) are a heterogenous group of rare monogenic disorders that affect innate or adaptive immuni...
Anifrolumab in Monogenic Lupus caused by TREX1 Mutation
Anifrolumab in Monogenic Lupus caused by TREX1 Mutation
Competing Interests "Funded by the European Union—Next Gene...
Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?
Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging?
Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and ...
Inheritance of STING mosaicism in two half-siblings
Inheritance of STING mosaicism in two half-siblings
The authors wish to thank the patients and their family for their participation in this study. The authors thank Mme Natha...
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 Under-Represented Ancestries
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 Under-Represented Ancestries
Advanced genomic technologies such as whole exome or whole genome sequencing have improved diagnoses and disease outcomes ...
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease
Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by pathogenic variants of genes encoding the e...
Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort
Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort
Immunoglobulin G replacement therapy (IgRT), intravenous (IV) and subcutaneous (SC) routes, is pivotal in treatment of pri...
A Cross-Sectional Study of Health-Related Quality of Life in Patients with Predominantly Antibody Deficiency
A Cross-Sectional Study of Health-Related Quality of Life in Patients with Predominantly Antibody Deficiency
Health-related quality of life (HRQoL) measures individual well-being across physical, psychological, and social domains. ...
Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency
Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency
The clinical penetrance of infectious diseases varies considerably among patients with inborn errors of immunity (IEI), ev...
Interferon Alpha Therapy in MSMD
Interferon Alpha Therapy in MSMD
Ethics Approval Ethics approval was taken from our Bai Jerb...
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans
Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and m...
The Pathogenic Role of Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibodies in the Nocardiosis with the Central Nervous System Involvement
The Pathogenic Role of Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibodies in the Nocardiosis with the Central Nervous System Involvement
Anti-granulocyte-macrophage colony-stimulating factor autoantibodies (anti-GM-CSF Abs) are implicated in the pathogenesis ...
Expanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease
Expanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease
Columbia University Medical Center: Dr. Joshua Milner and Dr. Stephen Canfield (allergy/immunology), Dr. Jesse Ross and Dr...
Hypogammaglobulinemia and Infection Events in Patients with Autoimmune Diseases Treated with Rituximab: 10 Years Real-Life Experience
Hypogammaglobulinemia and Infection Events in Patients with Autoimmune Diseases Treated with Rituximab: 10 Years Real-Life Experience
To investigate predictors of hypogammaglobulinemia (HGG) and severe infection event (SIE) in patients with autoimmune dise...
Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
Schimke immuno-osseous dysplasia is a rare multisystemic disorder caused by biallelic loss of function of the SMARCAL1 gen...
Long-Term Safety of Facilitated Subcutaneous Immunoglobulin 10% Treatment in US Clinical Practice in Patients with Primary Immunodeficiency Diseases: Results from a Post-Authorization Safety Study
Long-Term Safety of Facilitated Subcutaneous Immunoglobulin 10% Treatment in US Clinical Practice in Patients with Primary Immunodeficiency Diseases: Results from a Post-Authorization Safety Study
Facilitated subcutaneous immunoglobulin (fSCIG) 10% is an immunoglobulin replacement therapy that utilizes recombinant hum...
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency—Centromeric Instability—Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency—Centromeric Instability—Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study
Immunodeficiency–Centromeric instability–Facial dysmorphism (ICF) syndrome is an inborn error of immunity char...
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia
Severe congenital neutropenia (SCN) comprises a diverse range of rare hematological disorders characterized by recurrent, ...
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations
Heterozygous STAT1 Gain-of-Function (GOF) mutations are the most common cause of chronic mucocutaneous candidiasis (CMC) a...
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