Gastrointestinal symptoms and pathology in patients with Common variable immunodeficiency

ChEBI2015-09-02 更新2026-07-12 收录

原发性免疫缺陷病

胃肠道并发症分析

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-72625 数据链接链接失效反馈

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Gastrointestinal symptoms and pathology in patients with Common variable immunodeficiency

创建时间：

2015-09-02

Exome Sequencing for Diseases of the Immune Systems: X-linked Immunodeficiency with Magnesium Defect, EBV Infection and Neoplasma

原发性免疫缺陷病

X连锁疾病

The etiologies of primary immunodeficiencies often yield novel insights about the immune system. Although a genetic etiology has been suspected for patients with abnormally low CD4+ T cells in the abs

NIAID Data Ecosystem50

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

神经发育障碍遗传学

原发性免疫缺陷病

The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants are associated with 'Intellectual Disability, Autosomal Dominant 57' (MRD57), a n

NIAID Data Ecosystem20

Whole-exome sequencing of Two Siblings with X-Linked Agammaglobulinemia and Bronchiolitis Obliterans

原发性免疫缺陷病

闭塞性细支气管炎遗传学

Project Description: X-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B lymphocytes due to mutations in BTK gene. U

NIAID Data Ecosystem20

Data_Sheet_1_Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency.docx

自身免疫性胃炎

原发性免疫缺陷病

Primary immunodeficiency (PID) with immune dysregulation may present with early onset gastrointestinal autoimmune disorders. When gastrointestinal autoimmunity is associated with multiple extraintesti

NIAID Data Ecosystem40

Primary immunodeficiency related to beta-HPV susceptibility

原发性免疫缺陷病

β-HPV皮肤疾病机制

Beta-HPV are asymptomatic in the general population but are associated with a rare cutaneous disease in patients with primary immunodeficiencies. We decipher to identify the genetic defects responsibl

NIAID Data Ecosystem20

Gastrointestinal symptoms and pathology in patients with Common variable immunodeficiency

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