Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family
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To the Editor,
Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency was first described in 2012 . Currently, the data more than 100 patients around the world has been published, presenting with a broad range of clinical, immunologic, and genetic manifestations [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22]. This immunodeficiency can manifest as common variable immunodeficiency (CVID), autoimmune lymphoproliferative-like syndrome (ALPS)-like, immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX)-like, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)-like, isolated diabetes mellitus, arthritis, and combined immunodeficiency (CID) with multiple autoimmune diseases [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22].
KeywordsLRBA homozygous mutation multiple autoimmunity germline mosaicism Slavic family
We sincerely thank all our patients and their family members for their trust, cooperation, and consent to perform genetic and functional assays and the referring doctors for their help. We are also grateful to doctor Polina Stepensky and Professor Markus Seidel for the consultation on our Pt2.
Compliance with Ethical Standards
Conflict of Interest
The authors declare that they have no conflicts of interest.
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