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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Deep dermatophytosis and inherited CARD9 deficiency
New England Journal of Medicine, Volume 369, No. 18, Year 2013
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Description
BACKGROUND: Deep dermatophytosis is a severe and sometimes life-threatening fungal infection caused by dermatophytes. It is characterized by extensive dermal and subcutaneous tissue invasion and by frequent dissemination to the lymph nodes and, occasionally, the central nervous system. The condition is different from common superficial dermatophyte infection and has been reported in patients with no known immunodeficiency. Patients are mostly from North African, consanguineous, multiplex families, which strongly suggests a mendelian genetic cause. METHODS: We studied the clinical features of deep dermatophytosis in 17 patients with no known immunodeficiency from eight unrelated Tunisian, Algerian, and Moroccan families. Because CARD9 (caspase recruitment domain-containing protein 9) deficiency has been reported in an Iranian family with invasive fungal infections, we also sequenced CARD9 in the patients. RESULTS: Four patients died, at 28, 29, 37, and 39 years of age, with clinically active deep dermatophytosis. No other severe infections, fungal or otherwise, were reported in the surviving patients, who ranged in age from 37 to 75 years. The 15 Algerian and Tunisian patients, from seven unrelated families, had a homozygous Q289X CARD9 allele, due to a founder effect. The 2 Moroccan siblings were homozygous for the R101C CARD9 allele. Both alleles are rare deleterious variants. The familial segregation of these alleles was consistent with autosomal recessive inheritance and complete clinical penetrance. CONCLUSIONS: All the patients with deep dermatophytosis had autosomal recessive CARD9 deficiency. Deep dermatophytosis appears to be an important clinical manifestation of CARD9 deficiency. Copyright © 2013 Massachusetts Medical Society.
Authors & Co-Authors
Lanternier, Fanny L.
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Hôpital Necker Enfants Malades
Pathan, Saad
United Kingdom, London
University College London
Vincent, Quentin Benoit
France, Paris
L'institut Des Maladies Génétiques Imagine
Liu, Luyan
France, Paris
L'institut Des Maladies Génétiques Imagine
Cypowyj, Sophie
United States, New York
Rockefeller University
Prando, Carolina Cardoso De Mello
United States, New York
Rockefeller University
Migaud, Mélanie
France, Paris
L'institut Des Maladies Génétiques Imagine
Taibi, Lynda
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Ammar-Khodja, Aomar
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Stambouli, Omar Boudghene
Algeria, Tlemcen
Université Abou Bekr Belkaid Tlemcen
Guellil, Boumediene
Algeria, Sidi Bel Abbes
Université Djillali Liabes de Sidi Bel Abbes
Jacobs, Frédérique
Belgium, Brussels
Hôpital Erasme
Goffard, J. C.
Belgium, Brussels
Hôpital Erasme
Schepers, Kinda Maria
Belgium, Brussels
Hôpital Erasme
del Marmol, Veronique
Belgium, Brussels
Hôpital Erasme
Boussofara, Lobna
Tunisia, Sousse
Hopital Farhat Hached Sousse
Denguezli, Mohamed
Tunisia, Sousse
Hopital Farhat Hached Sousse
Larif, Molka
Tunisia, Sousse
Hopital Farhat Hached Sousse
Bachelez, Hervé
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
France, Paris
Hôpital Saint-louis
Michel, Laurence
France, Paris
Hôpital Necker Enfants Malades
Lefranc, Gérard
France, Montpellier
Igh Institut de Génétique Humaine
Hay, Roderick James
United Kingdom, London
International Foundation for Dermatology
Jouvion, Grégory
France, Paris
Hôpital Necker Enfants Malades
Chrétien, Fabrice
France, Paris
Hôpital Necker Enfants Malades
Fraïtag, Sylvie R.
France, Paris
Hôpital Necker Enfants Malades
Bougnoux, Marie Élisabeth
France, Paris
Hôpital Necker Enfants Malades
Boudia, Merad R.
Algeria, Tlemcen
Université Abou Bekr Belkaid Tlemcen
Abel, Laurent
France, Paris
L'institut Des Maladies Génétiques Imagine
United States, New York
Rockefeller University
Lortholary, Olivier
France, Paris
Hôpital Necker Enfants Malades
Casanova, Jean Laurent
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Hôpital Necker Enfants Malades
United States, New York
Rockefeller University
Pïcard, Capucine
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Hôpital Necker Enfants Malades
Grimbacher, Bodo
United Kingdom, London
University College London
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Puel, Anne
France, Paris
L'institut Des Maladies Génétiques Imagine
Statistics
Citations: 319
Authors: 33
Affiliations: 14
Identifiers
Doi:
10.1056/NEJMoa1208487
ISSN:
00284793
e-ISSN:
15334406
Research Areas
Genetics And Genomics