Athymic patients are classified as exhibiting complete DiGeorge syndrome. ... Conclusions: The Omenn syndrome-like manifestations might be associated with ...
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Pediatrics International (2013) 55, 2–6
doi: 10.1111/j.1442-200X.2012.03722.x
Original Article
Clinical and immunophenotypic features of atypical complete DiGeorge syndrome Quang Van Vu,1 Taizo Wada,1 Tomoko Toma,1 Hanako Tajima,2 Miho Maeda,2 Risa Tanaka,3 Tsutomu Oh-ishi3 and Akihiro Yachie1 1 Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, 2Department of Pediatrics, Nippon Medical School, Tokyo and 3Division of Infectious Disease, Immunology, and Allergy, Saitama Children’s Medical Center, Saitama, Japan Abstract
Background: 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. Methods: The clinical and immunophenotypic features of atypical complete DiGeorge syndrome were assessed in two affected Japanese infants. T-cell receptor (TCR) Vb repertoire was analyzed on flow cytometry and complementaritydetermining 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 Vb repertoire was demonstrated both in CD4+ and CD8+ T cells. Conclusions: The Omenn syndrome-like manifestations might be associated with the oligoclonal proliferation of activated T cells. Analysis of the immunophenotype and TCR Vb repertoire is helpful to establish the early diagnosis of atypical complete DiGeorge syndrome.
Key words DiGeorge syndrome, oligoclonal expansion, T cells, T-cell receptor Vb repertoire, thymus.
DiGeorge syndrome (DGS) is a congenital malformation characterized by thymus hypoplasia or aplasia, congenital heart disease, and hypoparathyroidism.1 Most cases result from a deletion of chromosome 22q11.2, and it occurs in approximately one in 4000 live births.1 Patients with DGS may have syndromic associations such as with coloboma, heart defect, choanal atresia, growth or developmental retardation, genital hypoplasia, ear anomalies or deafness (CHARGE), and diabetic embryopathy.2 The vast majority of DGS patients present with only minor thymic deficiencies and are classified as having partial DGS.3–5 In contrast,
