T-cell immunodeficiency in CHARGE syndrome

Acta Paediatrica, International Journal of Paediatrics

Volumn 98, Issue 2, 2009, Pages 408-410

  Chopra, Charu ^a   Baretto, Richard ^a   Duddridge, Michael ^a   Browning, Michael J ^a,b  

^a LEICESTER ROYAL INFIRMARY   (United Kingdom)

^b UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

CHARGE association; CHARGE syndrome; CHD7; Immunodeficiency; Lymphopenia; T cell

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IMMUNE DEFICIENCY; PRIORITY JOURNAL; SYNDROME CHARGE; T LYMPHOCYTE; UNITED KINGDOM;

ABNORMALITIES, MULTIPLE; CHOANAL ATRESIA; COLOBOMA; FEMALE; GENITALIA; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT, NEWBORN; MALE; SYNDROME; T-LYMPHOCYTES;

EID: 58449120496     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.01077.x     Document Type: Article

References (12)

1. Harris J, Robert E, Kallen B. Epidemiology of choanal atresia with special reference to the CHARGE association. Paediatrics 1997 99 : 363 7.
2. Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 2006 43 : 306 14.
3. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 2006 78 : 303 14.
4. Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RC. Immunological abnormalities in CHARGE syndrome. Eur J Med Genet 2007 50 : 338 45.
5. Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, et al. Mutations in CHD7 in patients with CHARGE syndrome cause T- B+ natural killer cell+ severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol 2008 153 : 75 80.
6. Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, et al. Review of 54 patients with complete Di George anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 2007 109 : 4539 47.
7. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. CHARGE association: an update and review for the primary paediatrician. Clin Pediatr (Phila) 1998 37 : 159 73.
8. Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 2005 133 : 306 8.
9. De Lonlay-Debeney P, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, et al. Features of DiGeorge syndrome and CHARGE association in five patients. J Med Genet 1997 34 : 986 9.
10. Barrett DJ, Ammann AJ, Wara DW, Cowan MJ, Fisher TJ, Stiehm ER. Clinical and immunological spectrum of the Di George syndrome. J Clin Lab Immunol 1981 6 : 1 6.
11. Sullivan KE, McDonald-McGinn D, Driscoll DA, Emanuel BS, Zackai EH, Jawad AF. Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/ Velocardiofacial syndrome). Clin Diagn Lab Immunol 1999 6 : 906 11.
12. Comans-Bitter WM, de Groot R, van den Beemd R, Neijens HJ, Hop WC, Groeneveld K, et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. J Pediatr 1997 130 : 388 93.