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      Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.

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          Abstract

          Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized by hypohidrosis, dental abnormalities, sparse hair, and immunodeficiency. Autosomal dominant (AD)-EDA-ID, caused by a heterozygous mutation within NFKBIA, is very rare and its clinical features remain largely unknown. This study describes a patient with AD-EDA-ID harboring a novel NFKBIA mutation who presented with mild EDA and non-infectious systemic inflammation.

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          Author and article information

          Journal
          J. Clin. Immunol.
          Journal of clinical immunology
          1573-2592
          0271-9142
          Oct 2013
          : 33
          : 7
          Affiliations
          [1 ] Department of Pediatrics, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawahara-cho, Sakyo, Kyoto, 606-8507, Japan.
          Article
          10.1007/s10875-013-9924-z
          23864385

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