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Generalized verrucosis in a patient with GATA 2 deficiency
Author(s) -
West E.S.,
Kingsbery M.Y.,
Mintz E.M.,
Hsu A.P.,
Holland S.M.,
Rady P.L.,
Tyring S.K.,
Grossman M.E.
Publication year - 2014
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.12794
Subject(s) - immunodeficiency , primary immunodeficiency , haploinsufficiency , immunology , immunodeficiency syndrome , medicine , lymphocytopenia , myeloid , biology , immune system , lymphocyte , genetics , gene , phenotype
Summary Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis; warts, hypogammaglobulinaemia, infections and myelokathexis ( WHIM ) syndrome; warts, immunodeficiency, lymphoedema and anogenital dysplasia ( WILD ) syndrome; severe combined immune deficiency and HIV , among others. In recent years, it has been consistently recognized in patients with GATA 2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B ‐cell and natural killer‐cell lymphopenia, and a tendency to develop myeloid leukaemias and disseminated mycobacterial, human papillomavirus ( HPV ) and opportunistic fungal infections. Mutations in GATA 2 cause haploinsufficiency and track in families as an autosomal dominant immunodeficiency. GATA 2 is a transcription factor involved in early haematopoietic differentiation and lymphatic and vascular development. We describe a case of generalized verrucosis with HPV type 57 presenting in a young man with GATA 2 deficiency. GATA 2 deficiency is a novel dominant immunodeficiency that is often recognized later in life and should be considered in the differential diagnosis of patients with generalized verrucosis.