Article
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
Journal of clinical immunology - 1 Jan 2023
Freund Tal, Baxter Sarah K, Walsh Tom, Golan Hana, Kapelushnik Joseph, Abramsohn-Goldenberg Michal, Benor Shira, Sarid Nadav, Ram Ron, Alcalay Yifat, Segel Reeval, Renbaum Paul, Stepensky Polina, King Mary-Claire, Torgerson Troy R, Hagin David
Abstract excerpt
Pathogenic variants in LRBA, encoding the LPS Responsive Beige-Like Anchor (LRBA) protein, are responsible for recessive, early-onset hypogammaglobulinemia, severe multi-organ autoimmunity, and lymphoproliferation, with increased risk for malignancy. LRBA deficiency has a wide clinical spectrum with variable age of onset and disease severity. Three apparently unrelated patients with LRBA deficiency, of Georgian...
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