Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.

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

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.

Affiliation

Stray-Pedersen A; Allergy & Immunology, Section of Immunology, Allergy and Rheumatology, Texas Children's Hospital, Houston, TX, USA.

J Clin Immunol ; 34(7): 871-90, 2014 Oct.

Article in En | MEDLINE | ID: mdl-25073507

Subject(s)

B-Lymphocytes/physiology; CD4-Positive T-Lymphocytes/physiology; Epidermodysplasia Verruciformis/genetics; Granuloma/genetics; Killer Cells, Natural/physiology; Leprosy, Tuberculoid/genetics; Microfilament Proteins/genetics; Molluscum Contagiosum/genetics; Mucous Membrane/pathology; Papillomavirus Infections/genetics; Severe Combined Immunodeficiency/genetics; Skin/pathology; Adolescent; Child; DNA Mutational Analysis; Epidermodysplasia Verruciformis/etiology; Female; Genetic Predisposition to Disease; Granuloma/complications; Heterozygote; Humans; Immunologic Memory/genetics; Leprosy, Tuberculoid/complications; Male; Mucous Membrane/virology; Mutation/genetics; Papillomavirus Infections/etiology; Polymorphism, Genetic; Severe Combined Immunodeficiency/complications; Siblings; Skin/virology; Telomere Shortening/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin / Epidermodysplasia Verruciformis / B-Lymphocytes / Killer Cells, Natural / Leprosy, Tuberculoid / CD4-Positive T-Lymphocytes / Severe Combined Immunodeficiency / Papillomavirus Infections / Granuloma / Microfilament Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: J Clin Immunol Year: 2014 Document type: Article Affiliation country: United States Country of publication: Netherlands

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