X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation | Zendy

Anthony J. Mancini | Zendy; Leslie P. Lawley | Zendy; Gülbû Uzel | Zendy

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X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation

Author(s) -

Anthony J. Mancini,

Leslie P. Lawley,

Gülbû Uzel

Publication year - 2008

Publication title -

archives of dermatology

Language(s) - English

Resource type - Journals

eISSN - 1538-3652

pISSN - 0003-987X

DOI - 10.1001/archderm.144.3.342

Subject(s) - incontinentia pigmenti , ectodermal dysplasia , palmoplantar keratoderma , medicine , immunodeficiency , hypogammaglobulinemia , erythroderma , severe combined immunodeficiency , hypohidrotic ectodermal dysplasia , genodermatosis , immunodeficiency syndrome , immunology , dermatology , pathology , biology , hyperkeratosis , genetics , gene , immune system , antibody

X-linked ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is described in patients with hypomorphic mutations in IKBKG (the inhibitory kappaB kinase gamma gene), which encodes nuclear factor kappaB essential modulator (NEMO). Features include hypohidrosis, dental anomalies, alopecia, and immunodeficiency. Boys with NEMO mutations often present with serious infections, but the NEMO mutations are rarely diagnosed early in infancy. Cutaneous features in these patients are poorly elucidated.

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