Published January 1, 2015
| Version v1
Journal article
Open
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
Creators
- Engelhardt, Karin R.
- Gertz, Michael E.1
- Keles, Sevgi
- Schaeffer, Alejandro A.1
- Sigmund, Elena C.2
- Glocker, Cristina2
- Saghafi, Shiva3
- Pourpak, Zahra3
- Ceja, Ruben
- Sassi, Atfa
- Graham, Laura E.
- Massaad, Michel J.4
- Mellouli, Fethi5
- Ben-Mustapha, Imen
- Khemiri, Monia6
- Kilic, Sara Sebnem7
- Etzioni, Amos
- Freeman, Alexandra F.8
- Thiel, Jens2
- Schulze, Ilka2
- Schulze, Ilka2
- 1. NIH, Natl Ctr Biotechnol Informat, Dept Hlth & Human Serv, Bethesda, MD 20892 USA
- 2. Univ Med Ctr Freiburg, CCI, Freiburg, Germany
- 3. Univ Tehran Med Sci, Childrens Med Ctr, Immunol Asthma & Allergy Res Inst, Tehran, Iran
- 4. Childrens Hosp, Div Immunol, Boston, MA 02115 USA
- 5. Bone Marrow Transplantat Ctr, Dept Pediat, Tunis, Tunisia
- 6. Childrens Hosp, Dept Pediat, Tunis, Tunisia
- 7. Uludag Univ, Dept Pediat Immunol, Fac Med, Bursa, Turkey
- 8. NIAID, Lab Clin Infect Dis, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA
Description
Background: 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.
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