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

Sukaiti, Nashat Al, AbdelRahman, Khwater, AlShekaili, Jalila, Al Oraimi, Sumaya, Al Sinani, Aisha, Al Rahbi, Nasser, Cho, Vicky, Field, Matt, and Cook, Matthew C. (2017) Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation. Clinical & Translational Immunology, 6 (5). e144.

[img]
Preview
PDF (Published Version) - Published Version
Available under License Creative Commons Attribution.

Download (1MB) | Preview
View at Publisher Website: https://doi.org/10.1038/cti.2017.20
 
33


Abstract

Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein (LRBA) cause immune deficiency and inflammation. Here, we are reporting a novel homozygous mutation in LRBA allele in 7-year-old Omani boy, born to consanguineous parents. He presented with type 1 diabetes, autoimmune haematological cytopenia, recurrent chest infections and lymphocytic interstitial lung disease. The patient was treated with CTLA4-Ig (abatacept) with good outcome every 2 weeks for a period of 3 months. He developed complete IgG deficiency, but remarkably, histological examination revealed germinal centres and plasma cells in lymphoid and inflamed lung tissue. Further charatecterisation showed these cells to express IgM but not IgG. This ex vivo analysis suggests that LRBA mutation confers a defect in class switching despite plasma cell formation.

Item ID: 53164
Item Type: Article (Research - C1)
ISSN: 2050-0068
Additional Information:

This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

Date Deposited: 01 May 2018 00:14
FoR Codes: 06 BIOLOGICAL SCIENCES > 0601 Biochemistry and Cell Biology > 060102 Bioinformatics @ 50%
11 MEDICAL AND HEALTH SCIENCES > 1107 Immunology > 110706 Immunogenetics (incl Genetic Immunology) @ 50%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920199 Clinical Health (Organs, Diseases and Abnormal Conditions) not elsewhere classified @ 100%
Downloads: Total: 33
Last 12 Months: 12
More Statistics

Actions (Repository Staff Only)

Item Control Page Item Control Page