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Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report.

Folgori, L; Scarselli, A; Angelino, G; Ferrari, F; Antoccia, A; Chessa, L; Finocchi, A (2010) Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report. Ital J Pediatr, 36. p. 29. ISSN 1824-7288
SGUL Authors: Folgori, Laura

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Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children. We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T. A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.

Item Type: Article
Additional Information: © 2010 Folgori et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Ataxia Telangiectasia, Child, Preschool, Diagnosis, Differential, Disease Progression, Granuloma, Humans, Male, Severe Combined Immunodeficiency, Skin Diseases, Humans, Ataxia Telangiectasia, Granuloma, Severe Combined Immunodeficiency, Skin Diseases, Disease Progression, Diagnosis, Differential, Child, Preschool, Male, 1114 Paediatrics And Reproductive Medicine
SGUL Research Institute / Research Centre: Academic Structure > Infection and Immunity Research Institute (INII)
Journal or Publication Title: Ital J Pediatr
ISSN: 1824-7288
Language: eng
11 April 2010Published
11 April 2010Accepted
Publisher License: Creative Commons: Attribution 2.0
PubMed ID: 20380744
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