Published online April 15, 2005
PEDIATRICS Vol. 115 No. 5 May 2005, pp. e615-e619 (doi:10.1542/peds.2004-1754)
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ELECTRONIC ARTICLE

NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

Cheng-Lung Ku, MS*, Sophie Dupuis-Girod, MD{ddagger}, Anna-Maria Dittrich, MD§, Jacinta Bustamante, MD*, Orchidée Filipe Santos, MS*, Ilka Schulze, MD, PhD§, Yves Bertrand, MD, PhD{ddagger}, Gérard Couly, MD||, Christine Bodemer, MD, Xavier Bossuyt, MD, PhD#, Capucine Picard, MD*,** and Jean-Laurent Casanova, MD, PhD*,**

* Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes-Institut National de la Santé et de la Recherche Médicale U550, Necker Medical School, Paris, France
{ddagger} Pediatric Hematology-Immunology, Debrousse Hospital, Lyon, France
§ Pediatric Pneumology and Immunology, Charite-Campus Virchow Klinikum, Berlin, Germany
|| Stomatology, Necker Hospital, Paris, France
Dermatology, Necker Hospital, Paris, France
# Laboratory of Experimental Medicine, University Hospital Leuven, Leuven, Belgium
** Pediatric Hematology-Immunology, Necker Hospital, Paris, France

X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency is a developmental and immunologic disorder caused by mutations in nuclear factor-{kappa}B essential modulator (NEMO), which is essential for nuclear factor-{kappa}B 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.

Key Words: NEMO • ectodermal dysplasia • conical teeth • immunodeficiency • NF-{kappa}B

Abbreviations: XL-EDA-ID, X-linked anhidrotic ectodermal dysplasia with immunodeficiency • NF-{kappa}B, nuclear factor-{kappa}B • NEMO, nuclear factor-{kappa}B essential modulator • TNF, tumor necrosis factor • IL, interleukin • Ig, immunoglobulin • Hib, Haemophilus influenzae type b

Accepted Nov 18, 2004.


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