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2017 ; 6
(5
): e144
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Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a
novel LRBA mutation
#MMPMID28690850
Al Sukaiti N
; AbdelRahman K
; AlShekaili J
; Al Oraimi S
; Al Sinani A
; Al Rahbi N
; Cho V
; Field M
; Cook MC
Clin Transl Immunology
2017[May]; 6
(5
): e144
PMID28690850
show ga
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.