Complete DiGeorge syndrome: Development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases

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. The purpose of this study was to determine wheth...

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2004-04, Vol.113 (4), p.734-741
Main Authors: Louise Markert, M, Alexieff, Marilyn J, Li, Jie, Sarzotti, Marcella, Ozaki, Daniel A, Devlin, Blythe H, Sempowski, Gregory D, Rhein, Maria E, Szabolcs, Paul, Hale, Laura P, Buckley, Rebecca H, Coyne, Katharine E, Rice, Henry E, Mahaffey, Samuel M, Skinner, Michael A
Format: Article
Language:English
Subjects:
Age
Biological and medical sciences
Child, Preschool
Clone Cells - pathology
Defects
Deoxyribonucleic acid
Diabetes
DiGeorge syndrome
DiGeorge Syndrome - complications
DiGeorge Syndrome - pathology
DNA
Exanthema - complications
Fatal Outcome
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Gastroesophageal reflux
Hispanic people
Humans
immunodeficiency
Immunopathology
Infant
Infections
Lymphatic Diseases - complications
Lymphocytes
Male
Medical sciences
Ostomy
Patients
Rodents
T cell receptors
T cells
T-Lymphocytes - pathology
thymus
Thymus Gland - abnormalities
transplantation
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Summary: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. The purpose of this study was to determine whether the patients had significant immunodeficiency. 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). 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 (
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2004.01.766