Autosomal Dominant Cases of Chronic Mucocutaneous Candidiasis Segregates with Mutations of Signal Transducer and Activator of Transcription 1, But Not of Toll-Like Receptor 3 - 22/06/13
Doi : 10.1016/j.jpeds.2013.02.040
Maysoun Al Rushood, MD 1, Christine McCusker, MD 1, Bruce Mazer, MD 1, Reza Alizadehfar, MD 1, Bodo Grimbacher, MD 2, 3, Mark Depner, MD 2, 3, Moshe Ben-Shoshan 1, ⁎ 
1 Division of Pediatric Allergy and Clinical Immunology, Department of Pediatrics, McGill University Health Center, Montreal, Quebec, Canada
2 Center of Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany
3 Faculty of Biology, Albert-Ludwigs-Universität, Freiburg, Germany
∗Reprint requests: Moshe-Ben Shoshan, MD, The Montreal Children's Hospital, McGill University Health Center, 2300 Tupper, Montreal, QC, Canada H3H 1P3.
Abstract |
We report a family with autosomal dominant chronic mucocutaneous candidiasis as well as recurrent viral infections that segregate with a novel signal transducer and activator of transcription 1 (STAT1) mutation. Prophylactic treatment with fluconazole and immunoglobulin replacement has been initiated, with good clinical response.
Le texte complet de cet article est disponible en PDF.Keyword : APECED, CMCC, IL, STAT1, Th, TLR3
Plan
| Part of the Canadian Primary Immunodeficiency Evaluation Study Initiative, which is supported by an unrestricted research grant from CSL Behring. M.B-S. has received the AllerGen NCE Emerging Clinician-Scientist Award. The authors declare no conflicts of interest. |
© 2013
Mosby, Inc. Tous droits réservés.
Vol 163 - N° 1
P. 277-279 - juillet 2013 Retour au numéro
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