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

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 dia...

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Bibliographic Details
Published in:Clinical & translational immunology 2017-05, Vol.6 (5), p.e144-n/a
Main Authors: Al Sukaiti, Nashat, AbdelRahman, Khwater, AlShekaili, Jalila, Al Oraimi, Sumaya, Al Sinani, Aisha, Al Rahbi, Nasser, Cho, Vicky, Field, Matt, Cook, Matthew C
Format: Article
Language:English
Subjects:
Age
Anemia
Beta cells
Case Report
Cell differentiation
Class switching
CTLA-4 protein
Cytomegalovirus
Deoxyribonucleic acid
Diabetes
Diabetes mellitus
Diabetes mellitus (insulin dependent)
DNA
Ear diseases
Families & family life
Germinal centers
Immunoglobulin G
Immunoglobulin M
Immunoglobulins
Inflammation
Lipopolysaccharides
Lung diseases
Lymphatic system
Mutation
Plasma cells
Pneumonia
Protein deficiency
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Summary: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.
ISSN:2050-0068
2050-0068
DOI:10.1038/cti.2017.20