Article
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Journal of clinical immunology - 1 Oct 2014
Stray-Pedersen Asbjorg, Jouanguy Emmanuelle, Crequer Amandine, Bertuch Alison A, Brown Betty S, Jhangiani Shalini N, Muzny Donna M, Gambin Tomasz, Sorte Hanne, Sasa Ghadir, Metry Denise, Campbell Judith, Sockrider Marianna M, Dishop Megan K, Scollard David M, Gibbs Richard A, Mace Emily M, Orange Jordan S, Lupski James R, Casanova Jean-Laurent, Noroski Lenora M
Abstract excerpt
PURPOSE: Coronin-1A deficiency is a recently recognized autosomal recessive primary immunodeficiency caused by mutations in CORO1A (OMIM 605000) that results in T-cell lymphopenia and is classified as T(-)B(+)NK(+)severe combined immunodeficiency (SCID). Only two other CORO1A-kindred are known to date, thus the defining characteristics are not well delineated. We identified a unique CORO1A-kindred. METHODS: We...
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