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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...
The Latin American Society for Immunodeficiencies Registry
The Latin American Society for Immunodeficiencies Registry
Purpose - The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inb...
Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies
Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies
A causal role of type-I interferons (IFN-I) in autoinflammatory type-I interferonopathies such as SAVI (STING–associ...
Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders
Dissecting Secondary Immunodeficiency: Identification of Primary Immunodeficiency within B-Cell Lymphoproliferative Disorders
Distinguishing between primary (PID) and secondary (SID) immunodeficiencies, particularly in relation to hematological B-c...
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity
Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has m...
Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm
Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm
X-linked agammaglobulinemia (XLA) due to a mutation in Bruton’s tyrosine kinase (BTK), leads to the arrested develop...
Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis
Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis
Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases characterized by impaired immune system func...
Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS)
Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS)
FAS gene defects lead to autoimmune lymphoproliferative syndrome (ALPS), which is often inherited in an autosomal dominant...
Granulomas in Common Variable Immunodeficiency Display Different Histopathological Features Compared to Other Granulomatous Diseases
Granulomas in Common Variable Immunodeficiency Display Different Histopathological Features Compared to Other Granulomatous Diseases
Granulomatous disease affects up to 20% of patients with Common Variable Immunodeficiency (CVID). Granulomas are comprised...
First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation
First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation
ISG15 deficiency is a mixed syndrome of Mendelian susceptibility to mycobacterial infections (MSMD), a rare inherited cond...
MDA5 gain-of-function associated with a Glu794del mutation
MDA5 gain-of-function associated with a Glu794del mutation
IFIH1 encodes the melanoma differentiation associated gene 5 protein (MDA5) which sen...
Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin
Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin
Authors and AffiliationsDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USAChristopher T. PeekDepartmen...
Health Care Utilisation in a Cohort of Patients with Primary and Secondary Antibody Deficiency in the United Kingdom
Health Care Utilisation in a Cohort of Patients with Primary and Secondary Antibody Deficiency in the United Kingdom
This study investigates the frequency of hospital attendances, emergency care attendances and geographical influences on s...
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developme...
Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome
Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF), is a rare disease with autosomal recess...
Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity
Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity
Talaromyces marneffei (T. marneffei) is an opportunistic pathogen that causes endemic mycoses, which could lead to multipl...
Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life
Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life
Ethics Approval The study protocol was approved by the inst...
Machine Learning of Laboratory Data in Predicting 30-Day Mortality for Adult Hemophagocytic Lymphohistiocytosis
Machine Learning of Laboratory Data in Predicting 30-Day Mortality for Adult Hemophagocytic Lymphohistiocytosis
Hemophagocytic Lymphohistiocytosis (HLH) carries a high mortality rate. Current existing risk-evaluation methodologies fal...
Levels of Natural Antibodies Before and After Immunoglobulin Replacement Treatment Affect the Clinical Phenotype in Common Variable Immunodeficiency
Levels of Natural Antibodies Before and After Immunoglobulin Replacement Treatment Affect the Clinical Phenotype in Common Variable Immunodeficiency
Natural antibodies (NAbs) occurring in individuals without prior exposure to specific antigens, provide direct first barri...
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