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

Nashat Al Sukaiti*, Khwater Abdelrahman, Jalila Alshekaili, Sumaya Al Oraimi, Aisha Al Sinani, Nasser Al Rahbi, Vicky Cho, Matt Field, Matthew C. Cook

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

17 اقتباسات (Scopus)

ملخص

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.

اللغة الأصليةEnglish
رقم المقالe144
دوريةClinical and Translational Immunology
مستوى الصوت6
رقم الإصدار5
المعرِّفات الرقمية للأشياء
حالة النشرPublished - 2017

ASJC Scopus subject areas

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