Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

@article{StrayPedersen2014CompoundHC,
  title={Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy},
  author={Asbjorg Stray-Pedersen and Emmanuelle Jouanguy and Amandine Cr{\'e}quer and Alison A Bertuch and Betty S. Brown and Shalini N. Jhangiani and Donna M. Muzny and Tomasz Gambin and Hanne S{\o}rmo Sorte and Ghadir S. Sasa and Denise W. Metry and Judith L. Campbell and Marianna M. Sockrider and Megan K. Dishop and David M. Scollard and Richard A. Gibbs and Emily M Mace and Jordan S Orange and James R Lupski and J. Hugo P{\'e}rez Casanova and Lenora M. Noroski},
  journal={Journal of Clinical Immunology},
  year={2014},
  volume={34},
  pages={871-890}
}
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. We captured a 10-year analysis of the immune-clinical phenotypes in two affected siblings from disease debut of… CONTINUE READING
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