Clinical and immunophenotypic features of atypical complete DiGeorge syndrome.
Pediatr Int
; 55(1): 2-6, 2013 Feb.
Article
in En
| MEDLINE
| ID: mdl-22978387
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) Vß 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 Vß 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 Vß repertoire is helpful to establish the early diagnosis of atypical complete DiGeorge syndrome.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
DiGeorge Syndrome
Type of study:
Screening_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Pediatr Int
Journal subject:
PEDIATRIA
Year:
2013
Type:
Article
Affiliation country:
Japan