Title |
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
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Published in |
The Journal of Allergy and Clinical Immunology, February 2015
|
DOI | 10.1016/j.jaci.2014.12.1945 |
Pubmed ID | |
Authors |
Karin R. Engelhardt, Michael E. Gertz, Sevgi Keles, Alejandro A. Schäffer, Elena C. Sigmund, Cristina Glocker, Shiva Saghafi, Zahra Pourpak, Ruben Ceja, Atfa Sassi, Laura E. Graham, Michel J. Massaad, Fethi Mellouli, Imen Ben-Mustapha, Monia Khemiri, Sara Sebnem Kilic, Amos Etzioni, Alexandra F. Freeman, Jens Thiel, Ilka Schulze, Waleed Al-Herz, Ayse Metin, Özden Sanal, Ilhan Tezcan, Mehdi Yeganeh, Tim Niehues, Gregor Dueckers, Sebastian Weinspach, Turkan Patiroglu, Ekrem Unal, Majed Dasouki, Mustafa Yilmaz, Ferah Genel, Caner Aytekin, Necil Kutukculer, Ayper Somer, Mehmet Kilic, Ismail Reisli, Yildiz Camcioglu, Andrew R. Gennery, Andrew J. Cant, Alison Jones, Bobby H. Gaspar, Peter D. Arkwright, Maria C. Pietrogrande, Zeina Baz, Salem Al-Tamemi, Vassilios Lougaris, Gerard Lefranc, Andre Megarbane, Jeannette Boutros, Nermeen Galal, Mohamed Bejaoui, Mohamed-Ridha Barbouche, Raif S. Geha, Talal A. Chatila, Bodo Grimbacher |
Abstract |
Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | <1% |
Denmark | 1 | <1% |
Unknown | 200 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 28 | 14% |
Researcher | 24 | 12% |
Student > Ph. D. Student | 19 | 9% |
Other | 18 | 9% |
Student > Doctoral Student | 14 | 7% |
Other | 44 | 22% |
Unknown | 55 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 69 | 34% |
Immunology and Microbiology | 25 | 12% |
Biochemistry, Genetics and Molecular Biology | 18 | 9% |
Agricultural and Biological Sciences | 8 | 4% |
Nursing and Health Professions | 3 | 1% |
Other | 13 | 6% |
Unknown | 66 | 33% |