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Clinical and immunophenotypic features of atypical complete DiGeorge syndrome
Author(s) -
Vu Quang Van,
Wada Taizo,
Toma Tomoko,
Tajima Hanako,
Maeda Miho,
Tanaka Risa,
Ohishi Tsutomu,
Yachie Akihiro
Publication year - 2013
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.2012.03722.x
Subject(s) - medicine , immunophenotyping , rash , t cell receptor , pathology , digeorge syndrome , repertoire , eosinophilia , immunology , t cell , flow cytometry , dermatology , immune system , psychiatry , physics , acoustics
Background D i G eorge syndrome is a congenital malformation characterized by variable defects of the thymus, heart and parathyroid glands. Athymic patients are classified as exhibiting complete D i G eorge 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 D i G eorge syndrome, resembles O menn syndrome, and has not been fully characterized. Methods The clinical and immunophenotypic features of atypical complete D i G eorge syndrome were assessed in two affected J apanese infants. T ‐cell receptor ( TCR ) Vβ repertoire was analyzed on flow cytometry and complementarity‐determining region 3 spectratyping. Results Both patients had no detectable thymus tissue and profound T ‐cell lymphopenia soon after birth. Progressive increase of activated T cells, however, as well as eosinophilia, high serum IgE level, generalized rash, and lymphadenopathy were observed during early infancy. A highly restricted TCR V β repertoire was demonstrated both in CD 4 + and CD 8 + T cells. Conclusions The O menn syndrome‐like manifestations might be associated with the oligoclonal proliferation of activated T cells. Analysis of the immunophenotype and TCR V β repertoire is helpful to establish the early diagnosis of atypical complete D i G eorge syndrome.