Immunological abnormalities in dyskeratosis congenita

Indian Pediatrics

Volumn 46, Issue 5, 2009, Pages 448-

  Khan, Sujoy ^a  

^a SCUNTHORPE GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYSKERIN;

DISEASE SEVERITY; DYSKERATOSIS CONGENITA; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; IMMUNOPATHOLOGY; IN SITU HYBRIDIZATION; INFECTION; LETTER; SEVERE COMBINED IMMUNODEFICIENCY; X LINKED AGAMMAGLOBULINEMIA; ANEMIA, APLASTIC; GENETICS; IMMUNOCOMPROMISED PATIENT; IMMUNOLOGY; PATHOLOGY;

ANEMIA, APLASTIC; DYSKERATOSIS CONGENITA; HUMANS; IMMUNOCOMPROMISED HOST;

EID: 66249118000     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Gupta V, Bhatia BD. Dyskeratosis congenita. Indian Pediatr 2008; 45: 936.
2. Knudson M, Kulkarni S, Ballas ZK, Bessler M, Goldman F. Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. Blood 2005; 105: 682-688. (Pubitemid 40070753)
3. Lee BW, Yap HK, Quah TC, Chong A, Seah CC. T cell immunodeficiency in dyskeratosis congenita. Arch Dis Child 1992; 67: 524-526.
4. Cossu F, Vulliamy TJ, Marrone A, Badiali M, Cao A, Dokal I. A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol 2002; 119: 765-768. (Pubitemid 35366220)
5. Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007; 110: 1439-1447.