Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a Workshop Held in Albany, New York, October 1, 1973

H. J. Meuwissen, B. Pollara, R. J. Pickering, A. Ammann, D. Biggar, P. Brunell, R. Buckley, F. Cohen, V. Cross, J. Dissing, E. Giblett, C. Griscelli, R. Hirschhorn, R. Hong, J. Huber, R. Keightley, J. Kersey, J. de Koning, H. Lischner, W. LosH. J. Meuwissen, E. C. Moore, H. D. Ochs, L. Pachman, B. Parks, F. Rosen, D. Singer, M. A. South, D. Wara, J. Wolfson, H. J. Meuwissen

Research output: Contribution to journalArticle

140 Scopus citations

Abstract

Fifty-five children with CID and known ADA status were studied at a Workshop held in Albany, New York. Erythrocyte ADA determinations were performed in 22 of the 55 patients, 13 of whom were ADA negative. The ADA defect appears to be transmitted as an autosomal recessive trait. Some patients with CID and ADA deficiency have characteristic radiologic abnormalities of the skeleton, which are not found in other illnesses. The thymus glands of all patients with CID and ADA deficiency who could be examined had evidence of thymic involution manifested by presence of Hassall's corpuscles and differentiated germinal epithelium; this is in contrast to "classic" thymus findings in CID with normal ADA. Adenosine deaminase probably plays an important, although as yet undefined, role in lymphocyte development and/or function. The deficiency of ADA in CID is the first enzyme defect observed in a deficiency disease of specific immunity.

Original languageEnglish (US)
Pages (from-to)169-181
Number of pages13
JournalThe Journal of pediatrics
Volume86
Issue number2
DOIs
StatePublished - Feb 1975

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Meuwissen, H. J., Pollara, B., Pickering, R. J., Ammann, A., Biggar, D., Brunell, P., Buckley, R., Cohen, F., Cross, V., Dissing, J., Giblett, E., Griscelli, C., Hirschhorn, R., Hong, R., Huber, J., Keightley, R., Kersey, J., de Koning, J., Lischner, H., ... Meuwissen, H. J. (1975). Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a Workshop Held in Albany, New York, October 1, 1973. The Journal of pediatrics, 86(2), 169-181. https://doi.org/10.1016/S0022-3476(75)80463-X