Ataxie télangiectasie : cas cliniques et revue de la littérature

Chaouki, S.; Dakhama, Badr Sououd Benjelloun; Alaoui, K.; Arqam, L El; Atmani, S.; Bouharrou, A.; Hida, M.; Bounasse, M.

doi:10.1016/j.jpp.2007.12.001

Cited by 3 publications

(3 citation statements)

References 15 publications

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“…The ataxia telangiectasia (AT) is a rare autosomal recessive disease, relatively common in the Mediterranean area [6]. Described for the first time by Louis-Bar in 1941 [7], it is a monogenic disease whose gene is located in 11q22-23 that was cloned in 1995 by Savitsky et al [8].…”

Section: Discussionmentioning

confidence: 99%

“…It was the case of our patient, who sent to us for severe pulmonary infection and in whom we found on clinical examination cerebellar ataxia and oculo-cutaneous telangiectasia reflecting an AT syndrome. Actually, the AT is considered as a disease entity in its own right contained in both serious constitutional immunodeficiencies that in the group of autosomal recessive cerebellar ataxias [6]. The neurological symptoms can be explained by the mutation of the gene responsible for ATM, in homozygous state, to systematic elimination of certain cell population.…”

Section: Discussionmentioning

confidence: 99%

“…A high of development cancer has been reported in patients homozygous (100 times greater in the normal population) [12]. This predisposition is partly due to the increased radiosensitivity but especially acquired chromosomal abnormalities [6]. For homozygous individuals, it is essentially lymphoma (50%), lymphoid leukemia (30%), and carcinomas (20% especially in adults) [13] [14].…”

Section: Discussionmentioning

confidence: 99%

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Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Serhane¹,

Louhab²,

Sajiai³

et al. 2015

CRCM

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Ataxia Telangiectasia (AT) is a rare autosomal recessive multisystem disease. The diagnosis is often made on a clinical triad that combines neurological signs dominated by a progressive cerebellar ataxia, oculocutaneous signs (telangiectasia, coffee stain milk), immunodeficiency (humoral and cellular) with sinopulmonary infections and elevated alphaphetoprotein. The diagnosis of AT is usually early, however, some forms may be revealed late. We reported a case of a 19-year-old patient, admitted for severe pneumonia with Klebsiella Pneumonia. In its history, it was found a notion of recurrent respiratory infections and bronchiectasis. In its clinical examination, it had been discovered cerebellar ataxia and occulocutaneous telangiectasia. The determination of plasmatic alphafoetoprotein was elevated, and the search of immunodeficiency showed a mixed deficit (humoral and cellular) suggesting the diagnosis of AT.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Serhane¹,

Louhab²,

Sajiai³

et al. 2015

CRCM

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Déficits immunitaires primitifs: approche diagnostique pour les pays émergents

Admou

Haouach

Ailal

et al. 2010

Immuno-analyse & Biologie Spécialisée

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Primary Immunodeficiency-Type Ataxia-Telangiectasia Revealed by Splenic Abscesses

Bebana,

Ghanam,

Tkak

et al. 2024

Cureus

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Ataxia-telangiectasia (A-T) is a rare inherited autosomal recessive disease. It is associated with an alteration in the ATM gene, located on chromosome 11q22-23, which codes for a protein involved in a complex way in cell cycle regulation and cell protection. It is characterized by cerebellar ataxia, cutaneous and ocular telangiectasia, and an immune deficiency responsible for recurrent infections. Diagnosis is generally delayed due to the late onset of neurological symptoms and telangiectasia. People suffering from this condition are particularly sensitive to ionizing radiation, which considerably increases their risk of developing neoplasia. We report an observation of a primary immunodeficiency-type A-T revealed by recurrent fever and multiple splenic abscesses.

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Ataxie télangiectasie : cas cliniques et revue de la littérature

Cited by 3 publications

References 15 publications

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Déficits immunitaires primitifs: approche diagnostique pour les pays émergents

Primary Immunodeficiency-Type Ataxia-Telangiectasia Revealed by Splenic Abscesses

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