Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM. J Pediatr. 2004;144:505–511
Purpose of the Study.
To describe immunodeficiency in ataxia-telangiectasia (A-T) and its clinical manifestations and course.
Patients with A-T who underwent multidisciplinary assessment at Johns Hopkins Hospital (Baltimore, MD).
Charts from the first 100 consecutive patients with A-T who were assessed at Johns Hopkins Ataxia-Telangiectasia Clinical Center were reviewed. Specific criteria for the diagnosis of A-T had to be met. Immunologic data were obtained by reviewing laboratory assessments of patients’ immune systems. Infections were determined by patient and family interviews and chart review.
A large percentage of patients had immunoglobulin deficiencies at the time of first immunologic assessment: 65% had IgG4 deficiency, 63% had IgA deficiency, 48% had IgG2 deficiency, and 23% had IgE deficiency. Deficiencies did not correlate or progress with age. Lymphopenia occurred in 71% of patients. CD19 B lymphocytes were reduced in 75% of patients. CD4 T cells were decreased in 69% of the patients, and CD8 T cells were decreased in 51% of the patients. Patients had no untoward effects from live viral vaccines. Recurrent upper respiratory infections occurred in one third of the patients regardless of age. Lower respiratory tract infections increased with age. Viral and opportunistic infections were not common.
Patients with A-T have a wide array of laboratory-based immunodeficiencies. However, there seems to be no correlation between laboratory values and clinical manifestation of immunodeficiency in this population.
This study confirms previously characterized immunodeficiencies in A-T patients. However, the large number of patients involved in this study allowed for a more extensive review of immunodeficiencies as well as clinical correlation of laboratory values. At this time it seems that clinical immunodeficiency is not common in A-T. Rather, the high rate of respiratory infections may be attributable to other factors of A-T such as neurologic deficits leading to aspiration.