title: Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.
abstract: Ataxia telangiectasia (AT) is an infrequent condition, which is difficult to diagnose in children. The objective was to describe the evolution of all affected patients controlled in our hospital and to highlight the keys for an early diagnosis considering the variability of immunological disorders. The present study is a retrospective review of all patients diagnosed and controlled of AT in our hospital. Twelve patients were found, including two couples of siblings. The most frequent reason for consultation was unstable gait. Seven patients suffered repeated infections, being pneumonia the most frequent cause of infection, followed by sinusitis. One of the patients developed Burkitt's lymphoma, and another patient, Hodgkin's lymphoma, which caused the death of the patient at the age of 11. A couple of siblings aged 17 and 22 years developed insulin-resistant diabetes mellitus. The most frequent immunity disorders were the IgG deficiency and the decrease of T lymphocytes. Seven patients were treated with non-specific gamma-globulin. By the end of the follow-up, 8 patients (ages ranged 7 to 12 years) lost gait. Molecular genetic testing was conducted in patients who are still cared for in our hospital. Clinical suspicion of this entity will lead to an early diagnosis, the treatment of complications, and to provide genetic counselling for the families.
authors.affiliation: Allergy and Clinical Immunology Section, Paediatrics Department, Integrated Unit Sant Joan de Déu--Clínic, Hospital Universitari Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain. gclaret@hsjdbcn.org
authors.forename: G
authors.initials: G
authors.lastname: Claret Teruel
authors.forename: M T
authors.initials: MT
authors.lastname: Giner Muñoz
authors.forename: A M
authors.initials: AM
authors.lastname: Plaza Martín
authors.forename: M A
authors.initials: MA
authors.lastname: Martín Mateos
authors.forename: M
authors.initials: M
authors.lastname: Piquer Gibert
authors.forename: J I
authors.initials: JI
authors.lastname: Sierra Martínez
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D007223:Infant; D008297:Male; D012189:Retrospective Studies