{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T11:09:53Z","timestamp":1697886593052},"reference-count":18,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1975,6,1]]},"DOI":"10.1136\/adc.50.6.486","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T21:14:24Z","timestamp":1229980464000},"page":"486-490","source":"Crossref","is-referenced-by-count":8,"title":["Combined immunodeficiency with hyper-gamma-globulinaemia."],"prefix":"10.1136","volume":"50","author":[{"given":"A D","family":"Webster","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Slavin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M K","family":"Strelling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G L","family":"Asherson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"issue":"688","key":"ref_1","article-title":"Duodenal ulcers in children","volume":"47","author":"Robb, J.D.A.; Orszulok, T.J.; Odling-Smee, G.W.","year":"1972","unstructured":"Robb, J. D. A., Orszulok, T. J., and Odling-Smee, G. W. (1972). Duodenal ulcers in children. Archives of Disease in Childhood, 47,688.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_2","article-title":"Infants with major defects in cell-mediated immunity and hypo-y-globulinaemia (severe combined immunodeficiency) usually die in the first few years of life from infections unless they receive a successful bone marrow transplant","year":"1964","unstructured":"Infants with major defects in cell-mediated immunity and hypo-y-globulinaemia (severe combined immunodeficiency) usually die in the first few years of life from infections unless they receive a successful bone marrow transplant. Nezelof et al. (1964) described an infant with a major defect in cell-mediated immunity and normal serum immunoglobulin levels who died at 16 months from a lung infection. This paper describes a similar infant with absent cell-mediated immunity and hyper-y-globulinaemia in whom we were unable to show any functional antibody.","journal-title":"Nezelof et al; described an infant with a major defect in cell-mediated immunity and normal serum immunoglobulin levels who died at 16 months from a lung infection. This paper describes a similar infant with absent cell-mediated immunity and hyper-y-globulinaemia in whom we were unable to show any functional antibody"},{"key":"ref_3","article-title":"It is therefore possible that the excessive production of IgA in our patient was related to the absence of suppressor T lymphocytes","author":"raised levels of serum IgA (Humphrey, Parrott; East, 1964","unstructured":"raised levels of serum IgA (Humphrey, Parrott, and East, 1964). It is therefore possible that the excessive production of IgA in our patient was related to the absence of suppressor T lymphocytes."},{"key":"ref_4","article-title":"Discussion munoglobulins does not rule out a severe and The clinical course, normal serum immunoglobulin levels, gross deficiency in cell-mediated immunity, and the presence of enlarged mediastinal lymph nodes containing plasma cells parallels the case described by Nezelof","author":"et al.,","year":"1964","unstructured":"Discussion munoglobulins does not rule out a severe and The clinical course, normal serum immunoglobulin levels, gross deficiency in cell-mediated immunity, and the presence of enlarged mediastinal lymph nodes containing plasma cells parallels the case described by Nezelof et al. (1964). The WHO Committee on Primary Immunodeficiency (Fudenberg et al., 1971) have classified such cases lethal immunodeficiency. The accepted treatment for SCID is a bone marrow graft, preferably from a histocompatible and mixed lymphocyte reaction negative sib. The treatment of choice in this rare subgroup is not clear, but it would seem rational to attempt a thymus graft initially, followed by a bone-marrow graft if this is unsuccessful.","journal-title":"et al; The WHO Committee on Primary Immunodeficiency (Fudenberg"},{"key":"ref_5","article-title":"Summary cently been suggested by Lawlor","year":"1974","unstructured":"Summary cently been suggested by Lawlor et al. (1974) that An infant is described with absence of cell this condition warrants a separate classification. mediated immunity and apparent failure to produce It is likely that the rise in serum immunoglobulins functional antibody despite raised serum imwas related to the Pn. carinii infection, and intense munoglobulin concentrations. A marked rise in antigenic stimulation from the lungs probably serum IgA occurred during the terminal phase of accounts for the plasma cell infiltrate of the mediahis illness. We draw attention to this subgroup stinal lymph nodes. The hyper-y-globulinaemia, of severe combined immunodeficiency where there particularly the rise in IgA, was clearly out of is a tendency to spontaneously develop hyper-yproportion to that seen in normal individuals after globulinaemia.","journal-title":"et al; that An infant is described with absence of cell this condition warrants a separate classification. mediated immunity and apparent failure to produce It is likely that the rise in serum immunoglobulins functional antibody despite raised serum imwas related to the Pn. carinii infection, and intense munoglobulin concentrations. A marked rise in antigenic stimulation from the lungs probably serum IgA occurred during the terminal phase of accounts for the plasma cell infiltrate of the mediahis illness. We draw attention to this subgroup stinal lymph nodes. The hyper-y-globulinaemia, of severe combined immunodeficiency where there particularly the rise in IgA, was clearly out of is a tendency to spontaneously develop hyper-yproportion to that seen in normal individuals after globulinaemia"},{"key":"ref_6","article-title":"described an infant with SCID who developed a grossly raised We thank","volume-title":"Papamichail, serum IgM, which they suggested was related to and Professor","author":"infection. Gelfand","year":"1973","unstructured":"infection. Gelfand et al. (1973) described an infant with SCID who developed a grossly raised We thank Drs. A. Howard, G. Loewi, M. Papamichail, serum IgM, which they suggested was related to and Professor J. Pepys, Judith Davies, Jill Boler, Maya transfer factor therapy. This case shows that such increases can occur spontaneously since it is inconceivable that the transfer factor given in this"},{"key":"ref_7","article-title":"REFERENCES described with very high levels of serum IgE","volume-title":"and IgD","author":"true","year":"1973","unstructured":"REFERENCES described with very high levels of serum IgE Fudenberg H., Good, R. A., Goodman, H. C., Hitzig, W., Kunkel, (Kikkawa et al., 1973) and IgD (Rubenstein, Speck, and Jeannet, 1971)."},{"key":"ref_8","first-page":"927","article-title":"The normal limitation of antibody production may depend upon the presence of special lymphocytes which suppress the response","volume":"47","author":"G., H.; Roitt, I.M.; Rosen, F.S.; Rowe, D.S.; Seligmann, M.; Soothill, J.R.","year":"1971","unstructured":"The normal limitation of antibody production may depend upon the presence of special lymphocytes which suppress the response. Experiments H. G., Roitt, I. M., Rosen, F. S., Rowe, D. S., Seligmann, M., and Soothill, J. R. (1971). Primary immunodeficiencies-report of a W.H.O. committee, Pediatrics, 47, 927.","journal-title":"committee, Pediatrics; Primary immunodeficiencies-report of a W. H. O"},{"key":"ref_9","article-title":"Polyclonal gammopathy and lymphoproliferation after transfer factor in severe combined immunodeficiency disease. New England3journal of Medicine, 289, in mice have shown that such suppressor lymphocytes occur after cell mediated","author":"Gelfand, E.W.; Baumal, R.; Huber, J.; Crookston, M.C.; Shumak, K.H.","year":"1973","unstructured":"Gelfand, E. W., Baumal, R., Huber, J., Crookston, M. C., and Shumak, K. H. (1973). Polyclonal gammopathy and lymphoproliferation after transfer factor in severe combined immunodeficiency disease. New England3journal of Medicine, 289, in mice have shown that such suppressor lymphocytes occur after cell mediated (Zembala and"},{"key":"ref_10","first-page":"930","article-title":"Infectious immunological tolerance","volume":"21","author":"Gershon, R.K.; Kondo, K.","year":"1971","unstructured":"Gershon, R. K., and Kondo, K. (1971). Infectious immunological tolerance. Immunology, 21, 930.","journal-title":"Immunology"},{"issue":"419","key":"ref_11","article-title":"and humoral immune reactions","volume":"7","author":"Asherson","year":"1973","unstructured":"Asherson, 1973) and humoral immune reactions Humphrey, J. H., Parrott, D. M. V., and East, J. (1964). Studies (Gershon and Kondo, 1971). Furthermore, mice on globulin and antibody production in mice thymectomized at birth. Immunology, 7,419.","journal-title":"Studies (Gershon and Kondo; Furthermore, mice on globulin and antibody production in mice thymectomized at birth"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1542\/peds.51.4.690","article-title":"Thymic alymphoplasia with hyper-IgE-globulinemia","volume":"51","author":"Kikkawa, Y.; Kamimura, K.; Hamajima, T.; Sekiguchi, T.; Kawai, T.; Takenaka, M.; Tada, T.","year":"1973","unstructured":"Kikkawa, Y., Kamimura, K., Hamajima, T., Sekiguchi, T., Kawai, T., Takenaka, M. and Tada, T. (1973). Thymic alymphoplasia with hyper-IgE-globulinemia. Pediatrics, 51, 690.","journal-title":"Pediatrics"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0022-3476(74)80599-8","article-title":"Syndrome of cellular immunodeficiency with immunoglobulins","volume":"84","author":"Lawlor, G.J.; Ammann, A.J.; Wright, W.C.; La Franchi, S.H.; Bilstrom, D.; Stiehm, E.R.","year":"1974","unstructured":"Lawlor, G. J., Ammann, A. J., Wright, W. C., La Franchi, S. H., Bilstrom, D., and Stiehm, E. R. (1974). Syndrome of cellular immunodeficiency with immunoglobulins. Journal of Pediattics, 84, 183.","journal-title":"Journal of Pediattics"},{"key":"ref_14","first-page":"897","article-title":"L'hypoplasie hereditaire du thymus","volume":"21","author":"Nezelof, C.; Jammet, M.L.; Lortholary, P.; Labrune, B.; Lamy, M.","year":"1964","unstructured":"Nezelof, C., Jammet, M. L., Lortholary, P., Labrune, B., and Lamy, M. (1964). L'hypoplasie hereditaire du thymus. Archives Francaises de P'diatrie, 21, 897.","journal-title":"Archives Francaises de P'diatrie"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1056\/NEJM197112162852503","article-title":"Successful bone-marrow transplantation in a lymphopenic immunologic deficiency syndrome","volume":"285","author":"Rubinstein, A.; Speck, B.; Jeannet, M.","year":"1971","unstructured":"Rubinstein, A., Speck, B., and Jeannet, M. (1971). Successful bone-marrow transplantation in a lymphopenic immunologic deficiency syndrome. New England Journal of Medicine 285, 1399.","journal-title":"New England Journal of Medicine"},{"issue":"227","key":"ref_16","article-title":"Depression of the T cell phenomenon of contact sensitivity by T cells from unresponsive mice","volume":"244","author":"Zembala, M.; Asherson, G.L.","year":"1973","unstructured":"Zembala, M., and Asherson, G. L. (1973). Depression of the T cell phenomenon of contact sensitivity by T cells from unresponsive mice. Nature, 244,227.","journal-title":"Nature"},{"key":"ref_17","article-title":"described the use of a dietary amino acid supplement in treatment of CF but noted no benefit to their patients","volume-title":"have reported encouraging results from the use of an artificial diet in the treatment of CF, with evidence of improvement in growth and clinical status","author":"Darby; Seakins","year":"1971","unstructured":"Darby and Seakins (1971) described the use of a dietary amino acid supplement in treatment of CF but noted no benefit to their patients. More recently, Allen, Mason, and Moss (1973) have reported encouraging results from the use of an artificial diet in the treatment of CF, with evidence of improvement in growth and clinical status."},{"key":"ref_18","article-title":"At the beginning of the trial patients were examined clinically and classified into grades 1 or 2 using the criteria similar to those recently described by Mearns","volume-title":"for assessing respiratory status","year":"1972","unstructured":"At the beginning of the trial patients were examined clinically and classified into grades 1 or 2 using the criteria similar to those recently described by Mearns (1972) for assessing respiratory status. Patients without"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.50.6.486","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T03:40:33Z","timestamp":1684813233000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.50.6.486"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,6,1]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1975,6,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.50.6.486","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1975,6,1]]}}}