Multiple Presentations of LRBA Deficiency: a Single-Center Experience
Özet
Introduction LPS-responsive beige-like anchor protein
(LRBA) deficiency is a primary immunodeficiency categorized as common variable immunodeficiency associated with
autoimmune manifestations and inflammatory bowel diseases; however, the clinical spectrum has been extended.
Here, we present our cohort of Turkish LRBA-deficient patients from a single center, demonstrating a diversity of clinical manifestations.
Method Seven affected individuals from five families were
assessed retrospectively in this study.
Results Of the seven patients with LRBA deficiency, four
had homozygous, and two had compound heterozygous
mutations. One patient remained disease free until the last
follow-up (age 17 years). The most common clinical
manifestations of the six symptomatic patients were
organomegaly (6/6), autoimmunity (6/6), and chronic
diarrhea (5/6). Recurrent infectious episodes were observed in three patients. None of the patients had
hypogammaglobulinemia at presentation. B cell subpopulation analysis revealed low numbers of switched-memory
B cell numbers in two of the four tested patients. During
the disease course, three of the patients died, two of them
underwent successful hematopoietic stem cell transplantation (HSCT) from matched sibling donors, and one is
under abatacept therapy.
Conclusion LRBA defects should always be kept in mind
as a differential diagnosis for patients with autoimmune
disease affecting multiple organs, chronic diarrhea, and
organomegalies. In our experience, early HSCT is a lifesaving therapeutic strategy.