Published online April 15, 2005
PEDIATRICS Vol. 115 No. 5 May 2005, pp. e615-e619 (doi:10.1542/10.1542/peds.2004-1754)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Ku, C.-L.
Right arrow Articles by Casanova, J.-L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ku, C.-L.
Right arrow Articles by Casanova, J.-L.
Related Collections
Right arrow Infectious Disease & Immunity
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Facebook   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Facebook Facebook   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?


This article has been cited by other articles:


Home page
 Clin. Microbiol. Rev.Home page
T. H. Mogensen
Pathogen Recognition and Inflammatory Signaling in Innate Immune Defenses
Clin. Microbiol. Rev., April 1, 2009; 22(2): 240 - 273.
[Abstract] [Full Text] [PDF]

Home page
 Arch DermatolHome page
A. J. Mancini, L. P. Lawley, and G. Uzel
X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation: Early Recognition and Diagnosis
Arch Dermatol, March 1, 2008; 144(3): 342 - 346.
[Abstract] [Full Text] [PDF]

Home page
 Infect. Immun.Home page
M. Carneiro-Sampaio and A. Coutinho
Immunity to Microbes: Lessons from Primary Immunodeficiencies
Infect. Immun., April 1, 2007; 75(4): 1545 - 1555.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
C.-L. Ku, C. Picard, M. Erdos, A. Jeurissen, J. Bustamante, A. Puel, H. von Bernuth, O. Filipe-Santos, H.-H. Chang, T. Lawrence, et al.
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
J. Med. Genet., January 1, 2007; 44(1): 16 - 23.
[Abstract] [Full Text] [PDF]