Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections - 30/01/13
Doi : 10.1016/j.jaci.2012.10.062
Darrell L. Dinwiddie, PhD a, h, i, j, Stephen F. Kingsmore, MB, ChB, BAO, DSc a, h, i, j, Sonia Caracciolo, PhD b, Giuseppe Rossi, MD c, Daniele Moratto, PhD b, Cinzia Mazza, PhD b, Cristiano Sabelli, PhD b, Rosa Bacchetta, MD d, Laura Passerini, PhD d, Chiara Magri, PhD e, Callum J. Bell, PhD f, Neil A. Miller, BA a, Shannon L. Hateley, BA f, Carol J. Saunders, PhD a, h, i, j, Lu Zhang, BS g, Gary P. Schroth, PhD g, Sergio Barlati, MD e, Raffaele Badolato, MD, PhD b 
a Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, Mo
h Department of Pediatrics, Children’s Mercy Hospital, Kansas City, Mo
i Department of Pathology, Children’s Mercy Hospital, Kansas City, Mo
b Istituto di Medicina Molecolare “Angelo Nocivelli,” Clinica Pediatrica dell’Università di Brescia, Brescia, Italy
c Divisione di Ematologia, Spedali Civili, Brescia, Italy
d San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Milan, Italy
e Sezione di Biologia e Genetica, Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Brescia, Brescia, Italy
f National Center for Genome Resources, Santa Fe, NM
g Illumina, Hayward, Calif
j School of Medicine, University of Missouri–Kansas City, Kansas City, Mo
| The study was approved by the Institutional Review Board of Spedali Civili, Brescia, and informed consent was obtained from the patients and/or the parents. |
|
| Supported by grants from Telethon Foundation Rome (GGP07241) and PRIN 2009 to R.B., National Institutes of Health (NIH) grant AI066569 to S.F.K., and in-kind support from Illumina and British Airways PLC (A Deo lumen, ab amicis auxilium). |
|
| Disclosure of potential conflict of interest: D. L. Dinwiddie, N. A. Miller, and S. L. Hateley have been supported by National Institutes of Health (NIH) grant AIO66569. S. F. Kingsmore has been supported by one or more grants from the NIH and the Marion Merrell Dow Foundation and is typically reimbursed for travel to and accommodations during meetings. S. Caracciolo has been supported by one or more grants from Unibs. R. Bacchetta and L. Passerini have been supported by one or more grants from Telethon Italia. G. P. Schroth is employed by Illumina. R. Badolato has been supported by one or more grants from Telethon Italia and MIUR (Italian government), has consultancy arrangements with 5000 euro, and has received one or more grants from or has one or more grants pending with Telethon Italia, MIUR, Fondazione Cariplo, and FP7 EU. The rest of the authors declare that they have no relevant conflicts of interest. |
© 2012
American Academy of Allergy, Asthma & Immunology. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 131 - N° 2
P. 594 - février 2013 Retour au numéro
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