title: Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases.
abstract: BACKGROUND
  Ataxia-telangiectasia (A-T) is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy.
  
  
  OBJECTIVE
  We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia Methods: we performed a retrospective study (1996-2012) in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features.
  
  
  RESULTS
  11 cases of AT were found. The mean age at onset of symptoms was 20 months with extremes varying from 3 months to 4 years. The median time to diagnosis was 3.6 years (range: 0-12 years).The main clinical feature of cerebellar syndrome, ataxia, was present at diagnosis in 8 patients and occurred at mean ages of 2.8 years. Ocular telangiectasia occurred at a mean age of 3.9 years (extremes: 3 months and 7 years). Recurrent sino-pulmonary infections that affected 7 children occurred at the mean age of 4.3 years. The most common humoral immune abnormality was serum IgA deficiency. Lymphopenia was found in 7 cases and lack of CD4 T in 6 cases. Cytogenetic analyses showed chromosomal instability in all children and a translocation (7-14) in two patients. A molecular diagnosis established in 6 patients from 4 families showed 5 different mutations of ATM gene. After an average decline of 5 years and 6 months, 7 patients died of severe pulmonary infection. Among them, 3 were ATM mutated.
  
  
  CONCLUSIONS
  Morbidity and mortality among patients with A- T are associated with ATM genotype.
authors.forename: Lamia
authors.initials: L
authors.lastname: Sfaihi
authors.forename: Dominique
authors.initials: D
authors.lastname: Stoppa Lyonnet
authors.forename: Salma
authors.initials: S
authors.lastname: Ben Ameur
authors.forename: Catherine
authors.initials: C
authors.lastname: Dubois D'enghien
authors.forename: Thouraya
authors.initials: T
authors.lastname: Kamoun
authors.forename: Mohamed Ridha
authors.initials: MR
authors.lastname: Barbouch
authors.forename: Mongia
authors.initials: M
authors.lastname: Hachicha
mesh_terms: D001260:Ataxia Telangiectasia / Q000175:diagnosis*; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D012189:Retrospective Studies; D014416:Tunisia
chemical_list: C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins