Article
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
The Journal of allergy and clinical immunology - 1 Jan 2016
Gámez-Díaz Laura, August Dietrich, Stepensky Polina, Revel-Vilk Shoshana, Seidel Markus G, Noriko Mitsuiki, Morio Tomohiro, Worth Austen J J, Blessing Jacob, Van de Veerdonk Frank, Feuchtinger Tobias, Kanariou Maria, Schmitt-Graeff Annette, Jung Sophie, Seneviratne Suranjith, Burns Siobhan, Belohradsky Bernd H, Rezaei Nima, Bakhtiar Shahrzad, Speckmann Carsten, Jordan Michael, Grimbacher Bodo
Abstract excerpt
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency caused by biallelic mutations in LRBA that abolish LRBA protein expression. OBJECTIVE: We sought to report the extended phenotype of LRBA deficiency in a cohort of 22 LRBA-deficient patients. METHODS: Clinical criteria, protein detection, and genetic sequencing were applied to diagnose LRBA deficiency. RESULTS:...
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