Abstract
Background: Five patients with DiGeorge syndrome presented with infections, skin rashes, and lymphadenopathy after the newborn period. T-cell counts and function varied greatly in each patient. Initial laboratory testing did not suggest athymia in these patients. Objective: The purpose of this study was to determine whether the patients had significant immunodeficiency. Methods: Research testing of peripheral blood included immunoscope evaluation of T-cell receptor β variable gene segment repertoire diversity, quantification of T-cell receptor rearrangement excision circles, and detection of naive T cells (expressing CD45RA and CD62L). Results: The patients were classified as having DiGeorge syndrome on the basis of syndromic associations and heart, parathyroid, and immune abnormalities. Immunoscope evaluation revealed that the T-cell repertoires were strikingly oligoclonal in all patients. There were few recent thymic emigrants, as indicated by the very low numbers of naive T cells (< 50/mm3) and the absence of T-cell receptor rearrangement excision circles. These studies showed that all 5 patients were athymic. Two patients died, one from infection. No thymus was found during the complete autopsy performed on one patient. Conclusion: Patients with DiGeorge syndrome, skin rash, and lymphadenopathy should undergo analysis of naive T-cell numbers and of T-cell receptor β variability segment repertoire to determine whether they are athymic, even if they have T cells with mitogen responsiveness. It is important for physicians to realize that patients with complete DiGeorge syndrome remain profoundly immunodeficient after development of these atypical features (rash, lymphadenopathy, and oligoclonal T cells). Prompt diagnosis is necessary for appropriate management.
Original language | English (US) |
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Pages (from-to) | 734-741 |
Number of pages | 8 |
Journal | Journal of Allergy and Clinical Immunology |
Volume | 113 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2004 |
Keywords
- DiGeorge syndrome
- Immunodeficiency
- T cells
- Thymus
- Transplantation
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology