Published January 1, 2017
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DOCK8 Deficiency Presenting as an IPEX-Like Disorder
Creators
- 1. Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Karp Family Bldg,Room 10-214,1 Blackfan St, Boston, MA 02115 USA
- 2. Necmettin Erbakan Univ, Div Pediat Allergy & Immunol, Konya, Turkey
- 3. St George Hosp Univ, Dept Pathol, Med Ctr, Beirut, Lebanon
- 4. St George Hosp Univ, Dept Pediat, Med Ctr, Beirut, Lebanon
- 5. King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Dept Pediat, Riyadh, Saudi Arabia
Description
The dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive-combined immunodeficiency whose clinical spectra include recurrent infections, autoimmunity, malignancies, elevated serum IgE, eczema, and food allergies. Here, we report on patients with loss of function DOCK8 mutations with profound immune dysregulation suggestive of an immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)-like disorder.
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