Document Type : Case Report


1 Allergy Research Center

2 Department of Pediatrics, Division of Immunology and Allergy, Namazi Hospital, Shiraz, Iran


Background: Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course of AT, we present a patient with an unusual presentation of these two conditions. Case presentation: An otherwise seemingly normal girl, who had developed limping at the age of 11 months old, referred to Namazi Hospital, Shiraz, Iran, due to pallor and latitude at the age of 3 yrs and was diagnosed with AIHA. After 2 years of therapeutic course she developed ocular telangiectasia and ataxic gate.
This case emphasizes the possibility of ataxia telangiectasia coexistence with autoimmune disorders and must be taken into consideration by physicians.