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Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party
Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party
C1q deficiency is a rare inborn error of immunity characterized by increased susceptibility to infections and autoimmune m...
Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome
Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome
Netherton syndrome (NS) is a rare, severe genetic skin disorder, currently classified as an inborn error of immunity (IEI)...
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia
Chronic neutropenia causes involve nutritional deficiencies and inborn errors of immunity(IEI), such as severe congenital ...
Endophilin A2 Deficiency Impairs Antibody Production in Humans
Endophilin A2 Deficiency Impairs Antibody Production in Humans
Endophilin A2, the sole endophilin A family member expressed in hematopoietic cells, regulates various aspects of membrane...
Outcomes of X-Linked Agammaglobulinaemia Patients
Outcomes of X-Linked Agammaglobulinaemia Patients
X-linked agammaglobulinaemia (XLA), caused by mutations in BTK, is characterised by low or absent peripheral CD19 +&...
Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control
Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control
Netherton syndrome (NS) is a rare inborn error of immunity (IEI) with an incidence of approximately 1:200,000 and the phen...
Similar Kinetics of Pulmonary SARS-CoV-2 Load in Intensive Care Unit Patients with COVID-19 Pneumonia with or Without Autoantibodies Neutralizing Type I Interferons
Similar Kinetics of Pulmonary SARS-CoV-2 Load in Intensive Care Unit Patients with COVID-19 Pneumonia with or Without Autoantibodies Neutralizing Type I Interferons
The pathogenesis of life-threatening coronavirus disease 2019 (COVID-19) pneumonia in ICU patients can involve pre-existin...
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...
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency
CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the ...
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...
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...
Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection
Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection
Autosomal recessive agammaglobulinemia is a severe primary antibody deficiency disorder typically presenting in infancy. W...
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia
The Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies at St. Louis Children’s Hospital and The ...
Severe Extrahematopoietic Manifestations in Complete STAT1 LOF after Successful Allogeneic HCT
Severe Extrahematopoietic Manifestations in Complete STAT1 LOF after Successful Allogeneic HCT
In contrast, we report a 3.7-year-old girl with prenatal diagnosis of complete AR STAT1 LOF (homozygous STAT1 c.1011_1012d...
HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome
HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome
Ethics Approval Informed consent was obtained from the pati...
Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency
Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency
This letter summarizes our experience with exclusive long-term ...
Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan
Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan
IL10RA (IL10 receptor subunit alpha) deficiency is an autosomal recessive disease that causes inflammatory bowel disease d...
Abnormal Immune Profile in Individuals with Kabuki Syndrome
Abnormal Immune Profile in Individuals with Kabuki Syndrome
To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotyp...
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti
Genetic hypomorphic defects in X chromosomal IKBKG coding for the NF-κB essential modulator (NEMO) lead to ectodermal...
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders
High ferritin is an important and sensitive biomarker for the various forms of hemophagocytic lymphohistiocytosis (HLH), a...
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