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Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID
Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID
Severe combined immunodeficiency (SCID) is a heterogeneous genetic disease characterized by severe T-cell lymphopenia with...
Chronic Kidney Disease in Common Variable Immunodeficiency: a Multicenter Study
Chronic Kidney Disease in Common Variable Immunodeficiency: a Multicenter Study
There are few reports of renal involvement in Common Variable Immunodeficiencies (CVID) and, when present, is due to infec...
Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV
Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV
A man living with HIV was found to lack expression of CD16A on his natural killer (NK) cells and monocytes. Genetic analys...
Mosaicism in Two Patients with COPA Syndrome
Mosaicism in Two Patients with COPA Syndrome
The authors would like to express their gratitude to the patients and their families for their participation to this study...
From Rare to Common: Genetic Insights into Variants in a Multicentric Spanish Study on COVID-19 Severity
From Rare to Common: Genetic Insights into Variants in a Multicentric Spanish Study on COVID-19 Severity
TLR7, which encodes a key receptor for single-stranded RNA (ssRNA) virus of the innate immune system, was recently associa...
Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12
Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Genetics in a Danish Common Variable Immunodeficiency Cohort
Genetics in a Danish Common Variable Immunodeficiency Cohort
Genetics of Common Variable Immunodeficiency (CVID) is complex and not fully elucidated. This study presents the clinical ...
Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort
Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort
DiGeorge Syndrome (DGS), a microdeletion syndrome, shows a broad spectrum from mild T-cell lymphopenia to severe combined ...
Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q Variant Potentially Pathogenetic in Unleashing Inflammation?
Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q Variant Potentially Pathogenetic in Unleashing Inflammation?
Familial Mediterranean Fever (FMF) is caused by mutations in the MEFV gene, which encodes for pyrin. Although genetic test...
NET Proteomic Profiling Reveals New Pathways Potentially Implicated in Dendritic Cell-Mediated Inflammation in DADA2 Patients
NET Proteomic Profiling Reveals New Pathways Potentially Implicated in Dendritic Cell-Mediated Inflammation in DADA2 Patients
Adenosine deaminase 2 Deficiency (DADA2) is an autoinflammatory disease characterized by systemic vasculopathy, strokes an...
Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review
Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review
Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) is the commonest cause of familial hemophagocytic lymphohistiocy...
BK Virus-Specific T Cell Response Associated with HLA Genotypes, RhD Status, and CMV or EBV Serostatus in Healthy Donors for Optimized Cell Therapy
BK Virus-Specific T Cell Response Associated with HLA Genotypes, RhD Status, and CMV or EBV Serostatus in Healthy Donors for Optimized Cell Therapy
The increasing application of virus-specific T cell therapy for treating BK virus infections in immunocompromised patients...
Successful Treatment of Skin Dyskeratosis Due To NLRP1 Mutation Using Baricitinib
Successful Treatment of Skin Dyskeratosis Due To NLRP1 Mutation Using Baricitinib
A seventeen-year-old male patient presented with widespread pustules, ulcers, and crusty skin affecting the entire body, i...
Somatic Mosaic Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity
Somatic Mosaic Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity
Autoinflammatory diseases (AIDs) are a group of disorders caused by a dysregulation of the innate immune system, among whi...
Evaluation of a Multiplex Electrochemiluminescence Assay for Detection of Anti-Pneumococcal Antibodies in the Diagnosis of Selective Polysaccharide Antibody Deficiency
Evaluation of a Multiplex Electrochemiluminescence Assay for Detection of Anti-Pneumococcal Antibodies in the Diagnosis of Selective Polysaccharide Antibody Deficiency
Streptococcus pneumoniae can be responsible for severe infections, especially in patients with primary antibody deficienci...
Missense Variant c.170 C > A of in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review
Missense Variant c.170 C > A of in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review
Congenital neutropenia (CN) is a rare hereditary blood disorder characterized by a significant reduction in neutrophils, m...
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...
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