NEMO mutations in 2 unrelated boys with severe infections and conical teeth.
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.
Ku
Cheng-Lung
CL
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.
Dupuis-Girod
Sophie
S
Dittrich
Anna-Maria
AM
Bustamante
Jacinta
J
Santos
Orchidée Filipe
OF
Schulze
Ilka
I
Bertrand
Yves
Y
Couly
Gérard
G
Bodemer
Christine
C
Bossuyt
Xavier
X
Picard
Capucine
C
Casanova
Jean-Laurent
JL
D000848:Anodontia / Q000235:genetics; D001424:Bacterial Infections / Q000209:etiology; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D051550:I-kappa B Kinase; D007136:Immunoglobulins / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics*
D007136:Immunoglobulins; D017346:Protein Serine-Threonine Kinases; C496559:CHUK protein, human; D051550:I-kappa B Kinase; C496560:IKBKB protein, human; C496565:IKBKE protein, human