Title: NEMO mutations in 2 unrelated boys with severe infections and conical teeth
Authors: Ku, Cheng-Lung ×
Dupuis-Girod, Sophie
Dittrich, Anna-Maria
Bustamante, Jacinta
Santos, Orchidée Filipe
Schulze, Ilka
Bertrand, Yves
Couly, Gérard
Bodemer, Christine
Bossuyt, Xavier
Picard, Capucine
Casanova, Jean-Laurent #
Issue Date: May-2005
Publisher: American Academy of Pediatrics
Series Title: Pediatrics vol:115 issue:5 pages:e615-9
Abstract: X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency is a developmental and immunologic disorder caused by mutations in nuclear factor-kappaB essential modulator (NEMO), which is essential for nuclear factor-kappaB activation. Early in life, affected boys present a typical appearance, with hypotrichosis or atrichosis, hypohidrosis or anhidrosis, and hypodontia or anodontia with conical incisors. They are also susceptible to various microorganisms, mostly pyogenic bacteria and mycobacteria. Here we report 2 unrelated boys, aged 6 and 11 years, who have novel mutations in NEMO and present conical incisors and hypodontia as their sole and long-unrecognized developmental anomaly. One child had isolated recurrent pneumococcal disease, whereas the other had multiple infections. Our observations indicate that conical incisors should prompt the search for NEMO mutations in boys with unusual infectious diseases.
ISSN: 0031-4005
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Clinical Bacteriology and Mycology
Experimental Laboratory Immunology
× corresponding author
# (joint) last author

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