# Primary Immunodeficiency-Type Ataxia-Telangiectasia Revealed by Splenic Abscesses

## TL;DR

This paper describes a case where a rare genetic disorder called Ataxia-Telangiectasia was diagnosed due to recurring infections and abscesses in the spleen.

## Contribution

The novelty lies in identifying Ataxia-Telangiectasia as a primary immunodeficiency through splenic abscesses rather than typical neurological or skin symptoms.

## Key findings

- Ataxia-Telangiectasia can manifest as a primary immunodeficiency with splenic abscesses.
- Recurrent fever and multiple abscesses can be early indicators of the disease.
- The condition is linked to mutations in the ATM gene.

## Abstract

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.