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. Los; H. 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

doi:10.1016/S0022-3476(75)80463-X

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

Pediatrics

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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 language	English (US)
Pages (from-to)	169-181
Number of pages	13
Journal	The Journal of pediatrics
Volume	86
Issue number	2
DOIs	https://doi.org/10.1016/S0022-3476(75)80463-X
State	Published - 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

@article{2e4e787e8e84432b9e452dc3f7731608,

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

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.",

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

note = "Funding Information: *The organization of the Workshop and preparation of this manuscript were made possible t~y a grantJ)'om the New York State Department of Health, by Public{"} Health Service grant R O1-A 1-11717, and a grant from Canada Council. **Reprint address: Department of Pediatrics, Albany, N. E 12208.",

year = "1975",

month = feb,

doi = "10.1016/S0022-3476(75)80463-X",

language = "English (US)",

volume = "86",

pages = "169--181",

journal = "Journal of Pediatrics",

issn = "0022-3476",

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Meuwissen, HJ, Pollara, B, Pickering, RJ, 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, Los, W, Meuwissen, HJ, Moore, EC, Ochs, HD, Pachman, L, Parks, B, Rosen, F, Singer, D, South, MA, Wara, D, Wolfson, J & Meuwissen, HJ 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, vol. 86, no. 2, pp. 169-181. https://doi.org/10.1016/S0022-3476(75)80463-X

TY - JOUR

T1 - Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a Workshop Held in Albany, New York, October 1, 1973

AU - Meuwissen, H. J.

AU - Pollara, B.

AU - Pickering, R. J.

AU - Ammann, A.

AU - Biggar, D.

AU - Brunell, P.

AU - Buckley, R.

AU - Cohen, F.

AU - Cross, V.

AU - Dissing, J.

AU - Giblett, E.

AU - Griscelli, C.

AU - Hirschhorn, R.

AU - Hong, R.

AU - Huber, J.

AU - Keightley, R.

AU - Kersey, J.

AU - de Koning, J.

AU - Lischner, H.

AU - Los, W.

AU - Meuwissen, H. J.

AU - Moore, E. C.

AU - Ochs, H. D.

AU - Pachman, L.

AU - Parks, B.

AU - Rosen, F.

AU - Singer, D.

AU - South, M. A.

AU - Wara, D.

AU - Wolfson, J.

AU - Meuwissen, H. J.

N1 - Funding Information: *The organization of the Workshop and preparation of this manuscript were made possible t~y a grantJ)'om the New York State Department of Health, by Public" Health Service grant R O1-A 1-11717, and a grant from Canada Council. **Reprint address: Department of Pediatrics, Albany, N. E 12208.

PY - 1975/2

Y1 - 1975/2

N2 - 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.

AB - 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.

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DO - 10.1016/S0022-3476(75)80463-X

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JO - Journal of Pediatrics

JF - Journal of Pediatrics

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ER -

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

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