J Clin Immunol (2017) 37:529–538 DOI 10.1007/s10875-017-0417-3 ORIGINAL ARTICLE Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness 1 2 3 1 Hidenori Ohnishi & Yuka Kishimoto & Tomohide Taguchi & Norio Kawamoto & 4 5 6 6 1,7 Mina Nakama & Tomoki Kawai & Manabu Nakayama & Osamu Ohara & Kenji Orii & 1,4,7 Toshiyuki Fukao Received: 12 May 2017 /Accepted: 27 June 2017 /Published online: 12 July 2017 Springer Science+Business Media, LLC 2017 Abstract delayed umbilical cord detachment or disseminated mycobac- Purpose Anhidrotic ectodermal dysplasia with immunodefi- terial infectious disease. We measured tumor necrosis factor ciency (EDA-ID) is caused by mutations in the NF-κBessen- (TNF)-α production and performed mutation screening. tial modulator (NEMO)orNF-κB inhibitor, alpha (IKBA) Results The TNF-α production from lipopolysaccharide genes. A heterozygous NEMO mutation causes incontinentia (LPS)-stimulated CD14-positive cells was partially defective pigmenti (IP) in females, while a hemizygous hypomorphic in both female patients. A genetic analysis showed them to mutation of NEMO causes EDA-ID in males. In general, im- carry the heterozygous NEMO mutations c.1167_1168insC or munodeficiency is not shown in IP patients. Here, we inves- c.1192C>T. Although NEMO mutations in IP patients are typ- tigated
Journal of Clinical Immunology – Springer Journals
Published: Jul 12, 2017
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