| T-cell immunodeficiency in CHARGE syndrome. | |
| | |
MedLine Citation:
|
PMID: 18976358 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
CHARGE syndrome comprises coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genitourinary anomalies and ear and hearing defects. The association between CHARGE syndrome and T-cell immunodeficiency is recognized, but has not been reported widely in the literature. We report four patients meeting the diagnostic criteria for CHARGE syndrome, who had moderate or severe T-cell lymphopenia complicated by infections. The patients presented in Leicester, UK, between 2000 and 2007. All patients were negative for 22q11.2 deletions by FISH analysis, but mutations in the CHD7 gene were identified in three patients in whom the analysis was performed. Our cases indicate that patients with CHARGE syndrome may have a spectrum of T-cell immune deficiency, and that this association may be more common than has previously been appreciated. We recommend that all patients diagnosed with CHARGE syndrome should have lymphocyte subsets evaluated as part of their initial investigation. Conclusion: Thymic hypoplasia should be included in the clinical features associated with CHARGE syndrome. All patients with CHARGE syndrome should have lymphocyte subset analysis performed, to exclude T-cell immunodeficiency. |
| | |
Authors:
|
Charu Chopra; Richard Baretto; Michael Duddridge; Michael J Browning |
Related Documents
:
|
2991618 - Unexplained lymphadenopathy in homosexual men. a longitudinal study. 8422108 - Cutaneous manifestations of histoplasmosis in the acquired immune deficiency syndrome. 7388668 - Molybdenum requirements of chickens. 416508 - Zinc and copper deficiency, with particular reference to parenteral nutrition. 22140078 - Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations. 10483758 - Turcot syndrome with colonic obstruction and small intestinal invagination: report of a... |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2008-10-13 |
Journal Detail:
|
Title: Acta paediatrica (Oslo, Norway : 1992) Volume: 98 ISSN: 1651-2227 ISO Abbreviation: Acta Paediatr. Publication Date: 2009 Feb |
Date Detail:
|
Created Date: 2009-01-15 Completed Date: 2009-05-05 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9205968 Medline TA: Acta Paediatr Country: Norway |
Other Details:
|
Languages: eng Pagination: 408-10 Citation Subset: IM |
Affiliation:
|
Department of Immunology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester LE1 5WW, UK. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple* Choanal Atresia / complications* Coloboma / complications* Female Genitalia / abnormalities* Growth Disorders / complications* Heart Defects, Congenital / complications* Humans Immunologic Deficiency Syndromes / complications* Infant, Newborn Male Syndrome T-Lymphocytes / immunology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Final height in Swedish children with idiopathic growth hormone deficiency enrolled in KIGS treated ...
Next Document: Body temperature measurement in VLBW infants by continuous skin measurement is a good or even better...