Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation-Reference-Cited by-同舟云学术

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Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation

Published:2017-05-26 Issue:5 Volume:6 Page:e144
ISSN:2050-0068
Container-title:Clinical & Translational Immunology
language:
Short-container-title:Clin Trans Immunol

Author:

Al Sukaiti Nashat,AbdelRahman Khwater,AlShekaili Jalila,Al Oraimi Sumaya,Al Sinani Aisha,Al Rahbi Nasser,Cho Vicky,Field Matt,Cook Matthew C

Publisher

Wiley

Subject

General Nursing,Immunology,Immunology and Allergy

Reference18 articles.

1. The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease

2. Crystal Structure of the PH−BEACH Domains of Human LRBA/BGL

3. Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

4. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

5. Spectrum of Phenotypes Associated with Mutations in LRBA

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Analysis of LRBA pathogenic variants and the association with functional protein domains and clinical presentation;Pediatric Allergy and Immunology;2024-06

2. Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease;Frontiers in Immunology;2022-12-09

3. Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient;Biology;2022-04-18

4. Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs;Frontiers in Medicine;2022-04-08

5. Potential protein–phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients;World Journal of Clinical Cases;2021-07-26

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