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Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells
Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells
Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenoty...
Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI)
Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI)
Allogeneic haematopoietic stem cell transplantation (alloHSCT) is safe and effective for adolescents and adults with inbor...
Baricitinib-Induced Remission of Alopecia Universalis in a Child with NFKB2-Associated Immune Dysregulation
Baricitinib-Induced Remission of Alopecia Universalis in a Child with NFKB2-Associated Immune Dysregulation
Zhou C, et al. Alopecia Areata: an update on etiopathogenesis, diagnosis, and management. Clin Rev Allergy Immunol. 2021;6...
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 ...
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...
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...
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...
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 ...
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...
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...
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...
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 ...
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...
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), ...
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 ...
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...
Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia
Unidentified Fever and Persistent Liver Dysfunction in a Patient with X-Linked Agamaglobulinemia
Turvey S E, Leo S H Boosa, et al. Successful Approach to Treatment of Helicobacter bilis infection in X-Linked agammaglobu...
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...
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 +&...
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...
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)...
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis
Patients with inborn errors of immunity (IEI) are susceptible to developing cancer due to defects in the immune system. Th...
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...
Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant
Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant
Lupus Research Alliance Global Team award to CGV and VP; Wellcome Trust Discovery Award to CGV; and core funding from The ...
Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings – the PIDCAP Project
Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings – the PIDCAP Project
Early diagnosis of inborn errors of immunity (IEIs) has been shown to reduce mortality, morbidity, and healthcare costs. T...
A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases
A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases
We would like to thank FUMENI A.C. for the support provided for the professional writing services in this project.STAT1 Co...
Severe Adverse Reaction to Measles Vaccine Due to Homozygous Mutation in the IFNAR2 Gene: A Case Report and Literature Review
Severe Adverse Reaction to Measles Vaccine Due to Homozygous Mutation in the IFNAR2 Gene: A Case Report and Literature Review
Receiving the measles vaccination is crucial for controlling the disease and preventing severe complications. However, adv...
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