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Details of gene mutations in 26 BCGosis/BCGitis patients with primary immunodeficiency.

Figshare2015-12-02 更新2026-04-29 收录

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https://figshare.com/articles/dataset/_Details_of_gene_mutations_in_26_BCGosis_BCGitis_patients_with_primary_immunodeficiency_/995477 数据链接链接失效反馈

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Details of gene mutations in 26 BCGosis/BCGitis patients with primary immunodeficiency.

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创建时间：

2015-12-02

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

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

自身免疫性胃炎

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

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

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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

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

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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

Details of gene mutations in 26 BCGosis/BCGitis patients with primary immunodeficiency.

资源简介：

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