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Article

Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology - 1 Jul 2011

Karamchandani-Patel Gital, Hanson Eric P, Saltzman Rushani, Kimball C Eve, Sorensen Ricardo U, Orange Jordan S

Abstract excerpt

BACKGROUND: Hypomorphic mutations in the nuclear factor-κB (NF-κB) essential modulator (NEMO) gene result in a variable syndrome of somatic and immunologic abnormalities. Clinically relevant genotype-phenotype associations are essential to understanding this complex disease. OBJECTIVE: To study 2 unrelated boys with novel NEMO mutations altering codon 223 for similarity in phenotype in consideration of potential...

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Share to Antibody Specificity
Share to Ectodermal Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia 1, Anhidrotic

Share to I-kappa B Kinase

Share to Immunoglobulins, Intravenous

Share to Immunologic Deficiency Syndromes

Share to Receptors, Tumor Necrosis Factor

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Identifiers

PMID: 21704885
DOI: 10.1016/j.anai.2011.03.009
PMCID: PMC3177139

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Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels.PMID 21704885Read ↗

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