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- Title
Clinical and immunophenotypic features of atypical complete DiGeorge syndrome.
- Authors
Vu, Quang Van; Wada, Taizo; Toma, Tomoko; Tajima, Hanako; Maeda, Miho; Tanaka, Risa; Oh-Ishi, Tsutomu; Yachie, Akihiro
- Abstract
DiGeorge syndrome is a congenital malformation characterized by variable defects of the thymus, heart and parathyroid glands. Athymic patients are classified as exhibiting complete DiGeorge syndrome. Some of these patients may also exhibit oligoclonal T-cell expansion, generalized rash and lymphadenopathy at some point after birth. This rare condition is known as atypical complete DiGeorge syndrome, resembles Omenn syndrome, and has not been fully characterized.
- Publication
Pediatrics international : official journal of the Japan Pediatric Society, 2013, Vol 55, Issue 1, p2
- ISSN
1442-200X
- Publication type
Journal Article
- DOI
10.1111/j.1442-200X.2012.03722.x