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

Volumn 34, Issue 7, 2014, Pages 871-890

  Stray Pedersen, Asbjorg ^a,b,c   Jouanguy, Emmanuelle ^d,e   Crequer, Amandine ^d,e   Bertuch, Alison A ^a,b   Brown, Betty S ^a,b   Jhangiani, Shalini N ^b   Muzny, Donna M ^b   Gambin, Tomasz ^b   Sorte, Hanne ^b,c   Sasa, Ghadir ^a,b   Metry, Denise ^a,b   Campbell, Judith ^a,b   Sockrider, Marianna M ^a,b   Dishop, Megan K ^a,f   Scollard, David M ^g   Gibbs, Richard A ^b   Mace, Emily M ^a,b   Orange, Jordan S ^a,b   Lupski, James R ^b   Casanova, Jean Laurent ^d,e   Noroski, Lenora M ^a,b   more..

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d ROCKEFELLER UNIVERSITY   (United States)

^e IMAGINE INSTITUTE   (France)

^f UNIVERSITY OF COLORADO   (United States)

^g National Hansens Disease Programs Clinical Branch   (United States)

Author keywords

CORO1A (Coronin 1A deficiency); HPV epidermodysplasia verruciformis; leprosy; molluscum; mucocutaneous; SCID CID; telomere; WES (whole exome sequencing)

Indexed keywords

ACTIN BINDING PROTEIN; CORONIN PROTEINS;

ADOLESCENT; B LYMPHOCYTE; CD4+ T LYMPHOCYTE; CHILD; COMPLICATION; EPIDERMODYSPLASIA VERRUCIFORMIS; FEMALE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GRANULOMA; HETEROZYGOTE; HUMAN; IMMUNOLOGICAL MEMORY; MALE; MOLLUSCUM CONTAGIOSUM; MUCOSA; MUTATION; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; PAPILLOMAVIRUS INFECTIONS; PATHOLOGY; PHYSIOLOGY; SEVERE COMBINED IMMUNODEFICIENCY; SIBLING; SKIN; TELOMERE SHORTENING; TUBERCULOID LEPROSY; VIROLOGY;

ADOLESCENT; B-LYMPHOCYTES; CD4-POSITIVE T-LYMPHOCYTES; CHILD; DNA MUTATIONAL ANALYSIS; EPIDERMODYSPLASIA VERRUCIFORMIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GRANULOMA; HETEROZYGOTE; HUMANS; IMMUNOLOGIC MEMORY; KILLER CELLS, NATURAL; LEPROSY, TUBERCULOID; MALE; MICROFILAMENT PROTEINS; MOLLUSCUM CONTAGIOSUM; MUCOUS MEMBRANE; MUTATION; PAPILLOMAVIRUS INFECTIONS; POLYMORPHISM, GENETIC; SEVERE COMBINED IMMUNODEFICIENCY; SIBLINGS; SKIN; TELOMERE SHORTENING;

EID: 84939874248     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0074-8     Document Type: Article

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