Different clinical and immunological presentation of ataxia-telangiectasia within the same family

Neuropediatrics

Volumn 39, Issue 1, 2008, Pages 43-45

  Soresina, A ^a,e   Meini, A ^a   Lougaris, V ^a   Cattaneo, G ^a   Pellegrino, S ^b   Piane, M ^c   Darra, F ^d   Plebani, A ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY OF VERONA   (Italy)

^e Clinica Pediatrica   (Italy)

Author keywords

Ataxia telangiectasia; Hyper IgM syndrome; Immunodeficiency

Indexed keywords

ATM PROTEIN; IMMUNOGLOBULIN; STEROID;

ALLELE; ANAMNESIS; ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; IMMUNOPHENOTYPING; IMMUNOTHERAPY; LABORATORY TEST; NEUROLOGIC EXAMINATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING;

ATAXIA TELANGIECTASIA; BLOTTING, WESTERN; CELL CYCLE PROTEINS; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; IMMUNOGLOBULIN M; IMMUNOPHENOTYPING; MUTATION; NEURODEGENERATIVE DISEASES; PROTEIN-SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS;

EID: 45149117672     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1076736     Document Type: Article

References (13)

1. Benkerrou M, Gougeon ML, Griscelli C, Fischer A. Hypogammaglobulinemie G e A avec hypergammaglobulinemie M: a propos de 12 observations. Arch Fr Pediatr 1990; 47: 345-349
2. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. PNAS 2001: 98: 12614-12619
3. Giovannetti A, Mazzetta F, Caprini E, Aiuti A, Marziali M, Pierdominici M et al. The T cell receptor Vb repertoire is restricted in ataxia-telangiectasia by skewed usage of variable genes, decreased thymic output and peripheralT cell expansion. Blood 2002; 100: 4082-4089
4. th edn., Philadelphia: Elsevier Sauders 2004; 580-604
5. Levis WR, Dattner AM, Shaw JS. Selective defects in T cell function in ataxia telangiectasia. Clin Exp Immunol 1979; 37: 44-49
6. Lumsden JM, MacCarty T, Petiniot LK, Shen R, Barlow C, Wynn TA et al. Immunoglobulin class switch recombination is impaired in Atm-deficient mice. J Exp Med 2004; 200: 1111-1121
7. MacFarlin DE, Strober W, Waldmann TA. Ataxia-telangiectasia. Medicine 1972; 51: 281-314
8. Quartier P, Bustamante J, Sanal O, Plebani A, Debrè M, Deville A et al. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper IgM syndrome due to activation-induced cytidine deaminase deficiency. Clin Immunol 2004; 100: 22-29
9. Sadighi AA, Humprey RL, Winkelstein JA, Loed DM, Lederman HM. Oligo/ monoclonal gammopathy and hypergammaglobulinemia in ataxia- telangiectasia: a study of 90 patients. Medicine 1999; 78: 370-381
10. San Martin BR, Chen HT, Nussenzweig A, Nussenzweig MC. ATM is required for efficient recombination between immunoglobulin switch regions. J Exp Med 2004; 200: 1103-1110
11. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995; 268: 1749-1753
12. Stewart GS, Last JI, Stankovic T, Haites N, Kidd AM, Byrd BJ et al. Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271→g mutations, showing a less severe phenotype. J Biol Chem 2001; 27: 30133-30141
13. Tangsinmankong N, Wayne AS, Howenstine MS, Washington KR, Langston C, Gatti RA et al. Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia. J Pediatr 2001; 138: 939-941