Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients.
Ataxia-telangiectasia is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, x-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. To evaluate clinical and immunologic features of Iranian patients with ataxia-telangiectasia, the records of 104 patients with ataxia-telangiectasia (54 male, 50 female) with the age range of 1.6-23.5 years were reviewed. The Iranian Primary Immunodeficiency Registry was used as the data source. Progressive ataxia was seen in all the patients. Other symptoms were eye movement disorders (n = 84), slurred speech (n = 70), mental retardation (n = 10), and ocular (n = 87) and cutaneous (n = 73) telangiectasia. Three patients developed leukemia and lymphoma, and 17 patients had family history of malignancy. Positive correlation was seen between clinical immunologic symptoms and immunoglobulin deficiencies (P = 0.004). The predominant infections were sinopulmonary and acute and recurrent infections (78 cases). Infections included pneumonia (56 patients), otitis media (34 patients), and sinusitis (50 patients). Average serum alpha-fetoprotein level was 149 +/- 137 ng/dL. The incidence of ataxia-telangiectasia in Iran is high, possibly due to familial marriages. Treatment should be focused on supportive management to prolong survival.
Moin
Mostafa
M
Department of Allergy and Clinical Immunology, Children's Medical Center, and Immunology, Asthma and Allergy Research Institute, Tehran, Iran.
Aghamohammadi
Asghar
A
Kouhi
Ali
A
Tavassoli
Sanaz
S
Rezaei
Nima
N
Ghaffari
Saeed-Reza
SR
Gharagozlou
Mohammad
M
Movahedi
Masoud
M
Purpak
Zahra
Z
Mirsaeid Ghazi
Bahram
B
Mahmoudi
Maryam
M
Farhoudi
Abolhasan
A
D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000453:epidemiology* / Q000503:physiopathology; D015704:CD4 Antigens / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005403:Fixation, Ocular / Q000502:physiology; D005434:Flow Cytometry; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D007223:Infant; D007492:Iran / Q000453:epidemiology; D008297:Male; D019957:Motor Skills Disorders / Q000453:epidemiology; D013601:T-Lymphocytes
D015704:CD4 Antigens; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M