TY - JOUR
T1 - Immunodeficiency and infections in ataxia-telangiectasia
AU - Nowak-Wegrzyn, Anna
AU - Crawford, Thomas O.
AU - Winkelstein, Jerry A.
AU - Carson, Kathryn A.
AU - Lederman, Howard M.
N1 - Funding Information:
Supported by Ataxia-Telangiectasia Children's Project, Deerfield Beach, FL; and Pediatric Clinical Research Center, The Johns Hopkins Hospital, Baltimore, MD, Grant RR00052, Division of Research Resources, National Institutes of Health.
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2004/4
Y1 - 2004/4
N2 - 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. Study design: 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.
AB - 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. Study design: 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.
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U2 - 10.1016/j.jpeds.2003.12.046
DO - 10.1016/j.jpeds.2003.12.046
M3 - Article
C2 - 15069401
AN - SCOPUS:1842607448
VL - 144
SP - 505
EP - 511
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 4
ER -