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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...
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation
Hereditary C1q deficiency (C1QDef) is a rare monogenic disorder leading to defective complement pathway activation and sys...
Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease
Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USACooper PennerDivision of Immunology and Alle...
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, et al. Improving cellular therapy for primary immu...
A Case Report of Folliculin-Interacting Protein 1 Deficiency
A Case Report of Folliculin-Interacting Protein 1 Deficiency
Ethics Approval Genetic studies and data collection procedu...
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients
Granulomatous lymphocytic interstitial lung disease (GLILD) represents a fatal immune dysregulatory complication in common...
“The Regimental Pediatrician”: the Finnish Child Refugees and the Temporary Children’s Hospital
“The Regimental Pediatrician”: the Finnish Child Refugees and the Temporary Children’s Hospital
Publisher's NoteSpringer Nature remains neutral with regard to jurisdictional claims in published maps and institutional a...
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association
GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its clinical picture is continuously evo...
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Centro Tettamanti, Fondazione IRCCS San Gerardo Dei Tintori, Monza, ItalyFrancesco Saettini, Grazia Fazio, Cristina Bugari...
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
Bronchiectasis is a major respiratory complication in patients with common variable immunodeficiency (CVID) and is associa...
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodefi...
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients
To compare the consumption of antibiotics (AB), systemic steroids, and inhaled bronchodilators/glucocorticoids in the 3 ye...
Phenotypic Variability in PRKCD: a Review of the Literature
Phenotypic Variability in PRKCD: a Review of the Literature
Protein kinase C δ (PKCδ) deficiency is a rare genetic disorder identified as a monogenic cause of systemic lupu...
Correction to: Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4‑Dependent Transendocytosis by Flow Cytometry
Correction to: Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4‑Dependent Transendocytosis by Flow Cytometry
Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, GermanyJessica Roja...
The Immune Status of Patients with 16p11.2 Deletion Syndrome
The Immune Status of Patients with 16p11.2 Deletion Syndrome
Ethics Approval This study was approved by the Colorado Multiple In...
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