LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells
-
Sima Shokri
,
Mohammad Nabavi
,
Tatjana Hirschmugl
,
Asghar Aghamohammadi
,
Saba Arshi
,
Mohamad Hassan Bemanian
,
Morteza Fallahpour
,
Rasool Molatefi
,
Mahsa Rekabi
,
Narges Eslami
,
Javad Ahmadian
,
Kian Darabi
,
Gholam Reza Sedighi
,
Maryam Monajemzadeh
,
Mohammadreza Modaresi
,
Nima Parvaneh
,
Kaan Boztug
,
Nima Rezaei
Abstract
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels. In spite of therapeutic doses of antibiotics, antivirals, and antifungal agents, in addition to immunoglobulin replacement therapy, he developed disseminated involvement of both lungs with peripheral nodules; transbronchial lung biopsy revealed possible bronchiolitis obliterans organizing pneumonia (BOOP). Combined homozygosity mapping and exome sequencing identified a homozygous LRBA mutation in this patient (p.Asp248Glufs*2). Such clinical and immunological findings have not been described to date and illustrate the broad and variable clinical phenotype of human LRBA deficiency.
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| Files | ||
| Issue | Vol 54, No 10 (2016) | |
| Section | Original Article(s) | |
| Keywords | ||
| Hypogammaglobulinemia LRBA deficiency Hyper IgM Bronchiolitis obliterans organizing pneumonia | ||
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