Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1979 Jul;54(7):518–523. doi: 10.1136/adc.54.7.518

Four families with immunodeficiency and chromosome abnormalities.

D C Candy, A R Hayward, D T Hughes, L Layward, J F Soothill
PMCID: PMC1545485  PMID: 314782

Abstract

Six children, with severe deficiency of some or all of the immunoglobulins and minor somatic abnormalities, had chromosomal abnormalities: (1) 45,XY,t(13q/18q), (2) 46,XY,21ps +, (3) two brothers 46,XY (inv. 7) (4) 45,X,t(11p/10p)/46X,iXq,t(11p/10p) and, (5) in addendum, 45,XX,-18;46,XX, r18. The chromosome abnormalities were detected in B- as well as T-lymphocytes (as evidenced by using both PHA- and PWM-stimulated cultures) in all probands, but one was mosaic in PHA culture, although all his PWM-stimulated cells were abnormal. Chromosomal variants were also detected in relatives of three and immunodeficiency in relatives of two.

Full text

PDF
518

Images in this article

519Fig. 1
on p.519
522Fig. 3
on p.522

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Butterworth M., McClellan B., Allansmith M. Influence of sex in immunoglobulin levels. Nature. 1967 Jun 17;214(5094):1224–1225. doi: 10.1038/2141224a0. [DOI] [PubMed] [Google Scholar]
  2. Calvani M., Franchi F., Aiuti F. Letter: Severe combined immuno-deficiency and trisomy D. Arch Dis Child. 1976 Jun;51(6):485–485. doi: 10.1136/adc.51.6.485-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Espanol T., Todd G. B., Soothill J. F. The effect of anaesthesia on the lymphocyte response to phytohaemagglutinin. Clin Exp Immunol. 1974 Sep;18(1):73–79. [PMC free article] [PubMed] [Google Scholar]
  4. Evans H. J. Chromosome anomalies among livebirths. J Med Genet. 1977 Oct;14(5):309–312. doi: 10.1136/jmg.14.5.309. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. FAHEY J. L., MCKELVEY E. M. QUANTITATIVE DETERMINATION OF SERUM IMMUNOGLOBULINS IN ANTIBODY-AGAR PLATES. J Immunol. 1965 Jan;94:84–90. [PubMed] [Google Scholar]
  6. Faed M. J., Whyte R., Paterson C. R., McCathie M., Robertson J. Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult. J Med Genet. 1972 Mar;9(1):102–105. doi: 10.1136/jmg.9.1.102. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Feingold M., Schwartz R. S., Atkins L., Anderson R., Bartsocas C. S., Page D. L., Littlefield J. W. IgA deficiency associated with partial deletion of chromosome 18. Am J Dis Child. 1969 Feb;117(2):129–136. doi: 10.1001/archpedi.1969.02100030131001. [DOI] [PubMed] [Google Scholar]
  8. Finley S. C., Finley W. H., Noto T. A., Uchida I. A., Roddam R. F. IgA absence associated with a ring-18 chromosome. Lancet. 1968 May 18;1(7551):1095–1096. doi: 10.1016/s0140-6736(68)91453-0. [DOI] [PubMed] [Google Scholar]
  9. Hayward A. R., Lawton A. R. Induction of plasma cell differentiation of human fetal lymphocytes: evidence for functional immaturity of T and B cells. J Immunol. 1977 Oct;119(4):1213–1217. [PubMed] [Google Scholar]
  10. Hungerford D. A. Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl. Stain Technol. 1965 Nov;40(6):333–338. doi: 10.3109/10520296509116440. [DOI] [PubMed] [Google Scholar]
  11. Jacobs J. C., de Capoa A., McGilvray E., Morse J. H., Schullinger J. N., Blanc W. A., Heird W. C., Miller O. J., Rossen R. D., Walzer R. A. Complement deficiency and chromosomalbreaks in a case of Swiss-type agammaglobulinaemia. Lancet. 1968 Mar 9;1(7541):499–503. doi: 10.1016/s0140-6736(68)91467-0. [DOI] [PubMed] [Google Scholar]
  12. KLINGER H. P., LUDWIG K. S. A universal stain for the sex chromatin body. Stain Technol. 1957 Sep;32(5):235–244. doi: 10.3109/10520295709111629. [DOI] [PubMed] [Google Scholar]
  13. Kretschmer R., Janeway C. A., Rosen F. S. Immunologic amnesia. Study of an 11-year-old girl with recurrent severe infections associated with dysgammaglobulinemia, lymphopenia and lymphocytotoxic antibody, resulting in loss of immunologic memory. Pediatr Res. 1968 Jan;2(1):7–16. doi: 10.1203/00006450-196801000-00007. [DOI] [PubMed] [Google Scholar]
  14. Nelson M. M., Blom A., Arens L. Letter: Chromosomes in ataxia-telangiectasia. Lancet. 1975 Mar 1;1(7905):518–519. doi: 10.1016/s0140-6736(75)92858-5. [DOI] [PubMed] [Google Scholar]
  15. Oxford J. M., Harnden D. G., Parrington J. M., Delhanty J. D. Specific chromosome aberrations in ataxia telangiectasia. J Med Genet. 1975 Sep;12(3):251–262. doi: 10.1136/jmg.12.3.251. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Rhodes K., Markham R. L., Maxwell P. M., Monk-Jones M. E. Immunoglobulins and the X-chromosome. Br Med J. 1969 Aug 23;3(5668):439–441. doi: 10.1136/bmj.3.5668.439. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Rowley J. D. Letter: Deletions of chromosome 7 in haematological disorders. Lancet. 1973 Dec 15;2(7842):1385–1386. doi: 10.1016/s0140-6736(73)93347-3. [DOI] [PubMed] [Google Scholar]
  18. Soothill J. F., Hayes K., Dudgeon J. A. The immunoglobulins in congenital rubella. Lancet. 1966 Jun 25;1(7452):1385–1388. doi: 10.1016/s0140-6736(66)90299-6. [DOI] [PubMed] [Google Scholar]
  19. Vianna-Morgante A. M., Nozaki M. J., Ortega C. C., Coates V., Yamamura Y. Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. J Med Genet. 1976 Oct;13(5):366–370. doi: 10.1136/jmg.13.5.366. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Wybran J., Chantler S., Fudenberg H. H. Isolation of normal T cells in chronic lymphatic leukaemia. Lancet. 1973 Jan 20;1(7795):126–129. doi: 10.1016/s0140-6736(73)90196-7. [DOI] [PubMed] [Google Scholar]
  21. Yanagisawa S. Immunoglobulin abnormality in a girl with a large chromosome 18. J Med Genet. 1972 Sep;9(3):360–365. doi: 10.1136/jmg.9.3.360. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES