Inherited BCL10 deficiency with impaired hematopoietic and non-hematopoietic immunity

ChEBI2014-10-31 更新2026-07-21 收录

原发性免疫缺陷病

BCL10基因功能

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-MTAB-2962 数据链接链接失效反馈

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Inherited BCL10 deficiency with impaired hematopoietic and non-hematopoietic immunity

创建时间：

2014-10-31

NCKAP1L defects lead to primary immunodeficincy and lymphoproliferation within a Hemophagocytic Lymphohistiocytosis-like syndrome

原发性免疫缺陷病

遗传性噬血细胞综合征

The Nck-Associated Protein 1-Like NCKAP1L gene, alternatively called Hematopoietic protein 1 (HEM-1), encodes a hematopoietic-specific regulator of the actin cytoskeleton, part of the WAVE2 complex. N

NIAID Data Ecosystem70

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

Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease [whole blood]

原发性免疫缺陷病

宿主-微生物相互作用

We report a pleiotropic disease due to loss-of-function mutations in RHBDF2, the gene encoding iRHOM2, in 2 kindreds with recurrent infections in different organs. One patient had recurrent pneumonia

NIAID Data Ecosystem30

Supporting data for Development of a novel enrichment panel for sequencing and a tailored data analysis pipeline for molecular diagnosis of primary immunodeficiencies

原发性免疫缺陷病

基因测序分析

This EXCEL file contains two sheets. The first sheet contains the metadata of the molecular diagnosis result from a batch of primary immunodeficiency patients. The content is confidential and contains

NIAID Data Ecosystem50

Table_1_Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?.xlsx

ARPC1B缺陷放射敏感性

原发性免疫缺陷病

Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized by recurrent infecti

NIAID Data Ecosystem30

Inherited BCL10 deficiency with impaired hematopoietic and non-hematopoietic immunity

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