Immunodeficiency and infections in ataxia-telangiectasia.
OBJECTIVE
To characterize the immunodeficiency in ataxia-telangiectasia (A-T) and to determine whether the immunodeficiency is progressive and associated with increased susceptibility to infections.


METHODS
Records of 100 consecutive patients with A-T from the Johns Hopkins Ataxia-Telangiectasia Clinical Center (ATCC) were reviewed.


RESULTS
Immunoglobulin (Ig) deficiencies are common, affecting IgG4 in 65% of patients, IgA in 63%, IgG2 in 48%, IgE in 23%, and IgG in 18%. Lymphopenia affected 71% of patients, with reduced B-lymphocyte number in 75%, CD4 T lymphocytes in 69%, and CD8 T lymphocytes in 51%. There was no trend for increased frequency or severity of immune abnormalities with age. Recurrent upper and lower respiratory tract infections were frequent: otitis media in 46% of patients, sinusitis in 27%, bronchitis in 19%, and pneumonia in 15%. Sepsis occurred in 5 patients, in 2 patients concurrent with cancer chemotherapy. Warts affected 17% of patients, herpes simplex 8%, molluscum contagiosum 5%, candidal esophagitis 3%, and herpes zoster 2%. Uncomplicated varicella infection occurred in 44% of patients; 2 patients had more than one clinical episode. No patient had Pneumocystis jerovici pneumonia or a complication of live viral vaccine.


CONCLUSIONS
In spite of the high prevalence of laboratory immunologic abnormalities, systemic bacterial, severe viral, and opportunistic infections are uncommon in A-T. Cross-sectional analysis suggests that the immune defect is rarely progressive.
Nowak-Wegrzyn
Anna
A
Eudowood Division of Pediatric Allergy and Immunology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287-3923, USA.
Crawford
Thomas O
TO
Winkelstein
Jerry A
JA
Carson
Kathryn A
KA
Lederman
Howard M
HM
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000188:drug therapy / Q000276:immunology* / Q000401:mortality; D002644:Chickenpox / Q000150:complications / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D004941:Esophagitis / Q000150:complications / Q000276:immunology / Q000382:microbiology; D005260:Female; D006562:Herpes Zoster / Q000150:complications / Q000276:immunology; D006801:Humans; D007136:Immunoglobulins / Q000097:blood / Q000172:deficiency*; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007223:Infant; D007694:Killer Cells, Natural / Q000378:metabolism; D007970:Leukopenia / Q000276:immunology; D018655:Lymphocyte Count; D008231:Lymphopenia / Q000276:immunology; D008297:Male; D010033:Otitis Media / Q000150:complications / Q000276:immunology; D012141:Respiratory Tract Infections / Q000150:complications / Q000276:immunology*; D018805:Sepsis / Q000150:complications / Q000276:immunology; D017193:Skin Diseases, Viral / Q000150:complications / Q000276:immunology
D007136:Immunoglobulins; D016756:Immunoglobulins, Intravenous