Primary Immunodeficiency-Type Ataxia-Telangiectasia Revealed by Splenic Abscesses

Ataxia-telangiectasia (A-T) is a rare inherited autosomal recessive disease. It is associated with an alteration in the 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, cu...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-07, Vol.16 (7), p.e64595
Main Authors: Bebana, Addou, Ghanam, Ayad, Tkak, Hassnae, Elouali, Aziza, Babakhouya, Abdeladim, Rkain, Maria
Format: Article
Language:English
Subjects:
Abdomen
Abscesses
Antibiotics
Ataxia
Children & youth
Fever
Hepatitis
Immune system
Immunoglobulins
Immunology
Infections
Medical imaging
Neurology
Ophthalmology
Pediatrics
Pneumonia
Radiation
Ultrasonic imaging
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Summary:Ataxia-telangiectasia (A-T) is a rare inherited autosomal recessive disease. It is associated with an alteration in the 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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.64595