Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1988 Jul;63(7 Spec No):758–764. doi: 10.1136/adc.63.7_spec_no.758

Prenatal diagnosis and carrier detection in primary immunodeficiency disorders.

Y L Lau 1, R J Levinsky 1
PMCID: PMC1590116  PMID: 3046509

Full text

PDF
758

Selected References

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

  1. Baehner R. L., Kunkel L. M., Monaco A. P., Haines J. L., Conneally P. M., Palmer C., Heerema N., Orkin S. H. DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A. 1986 May;83(10):3398–3401. doi: 10.1073/pnas.83.10.3398. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Brandrup F., Koch C., Petri M., Schiødt M., Johansen K. S. Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease. Br J Dermatol. 1981 May;104(5):495–505. doi: 10.1111/j.1365-2133.1981.tb08163.x. [DOI] [PubMed] [Google Scholar]
  3. Cohen M. S., Isturiz R. E., Malech H. L., Root R. K., Wilfert C. M., Gutman L., Buckley R. H. Fungal infection in chronic granulomatous disease. The importance of the phagocyte in defense against fungi. Am J Med. 1981 Jul;71(1):59–66. doi: 10.1016/0002-9343(81)90259-x. [DOI] [PubMed] [Google Scholar]
  4. Conley M. E., Brown P., Pickard A. R., Buckley R. H., Miller D. S., Raskind W. H., Singer J. W., Fialkow P. J. Expression of the gene defect in X-linked agammaglobulinemia. N Engl J Med. 1986 Aug 28;315(9):564–567. doi: 10.1056/NEJM198608283150907. [DOI] [PubMed] [Google Scholar]
  5. Dinauer M. C., Orkin S. H., Brown R., Jesaitis A. J., Parkos C. A. The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. 1987 Jun 25-Jul 1Nature. 327(6124):717–720. doi: 10.1038/327717a0. [DOI] [PubMed] [Google Scholar]
  6. Dooley T., Fairbanks L. D., Simmonds H. A., Rodeck C. H., Nicolaides K. H., Soothill P. W., Stewart P., Morgan G., Levinsky R. J. First trimester diagnosis of adenosine deaminase deficiency. Prenat Diagn. 1987 Oct;7(8):561–565. doi: 10.1002/pd.1970070806. [DOI] [PubMed] [Google Scholar]
  7. Durandy A., Cerf-Bensussan N., Dumez Y., Griscelli C. Prenatal diagnosis of severe combined immunodeficiency with defective synthesis of HLA molecules. Prenat Diagn. 1987;7(1):27–34. doi: 10.1002/pd.1970070106. [DOI] [PubMed] [Google Scholar]
  8. Fearon E. R., Winkelstein J. A., Civin C. I., Pardoll D. M., Vogelstein B. Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N Engl J Med. 1987 Feb 19;316(8):427–431. doi: 10.1056/NEJM198702193160802. [DOI] [PubMed] [Google Scholar]
  9. Goodship J., Malcolm S., Lau Y. L., Pembrey M. E., Levinsky R. J. Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency. Lancet. 1988 Apr 2;1(8588):729–732. doi: 10.1016/s0140-6736(88)91537-1. [DOI] [PubMed] [Google Scholar]
  10. Hamilton J. K., Paquin L. A., Sullivan J. L., Maurer H. S., Cruzi F. G., Provisor A. J., Steuber C. P., Hawkins E., Yawn D., Cornet J. A. X-linked lymphoproliferative syndrome registry report. J Pediatr. 1980 Apr;96(4):669–673. doi: 10.1016/s0022-3476(80)80735-9. [DOI] [PubMed] [Google Scholar]
  11. LYON M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. doi: 10.1038/190372a0. [DOI] [PubMed] [Google Scholar]
  12. Lederman H. M., Winkelstein J. A. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore) 1985 May;64(3):145–156. [PubMed] [Google Scholar]
  13. Levinsky R. J., Harvey B. A., Rodeck C. H., Soothill J. F. Phorbol myristate acetate stimulated NBT test: a simple method suitable for antenatal diagnosis of chronic granulomatous disease. Clin Exp Immunol. 1983 Nov;54(2):595–598. [PMC free article] [PubMed] [Google Scholar]
  14. Linch D. C., Beverley P. C., Levinsky R. J., Rodeck C. H. Phenotypic analysis of fetal blood leucocytes: potential for prenatal diagnosis of immunodeficiency disorders. Prenat Diagn. 1982 Jul;2(3):211–218. doi: 10.1002/pd.1970020310. [DOI] [PubMed] [Google Scholar]
  15. Linch D. C., Levinsky R. J. Prenatal diagnosis of immunodeficiency disorders. Br Med Bull. 1983 Oct;39(4):399–404. doi: 10.1093/oxfordjournals.bmb.a071854. [DOI] [PubMed] [Google Scholar]
  16. Lisowska-Grospierre B., Charron D. J., de Préval C., Durandy A., Griscelli C., Mach B. A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome. J Clin Invest. 1985 Jul;76(1):381–385. doi: 10.1172/JCI111974. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Malcolm S., de Saint Basile G., Arveiler B., Lau Y. L., Szabo P., Fischer A., Griscelli C., Debre M., Mandel J. L., Callard R. E. Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA). Hum Genet. 1987 Oct;77(2):172–174. doi: 10.1007/BF00272387. [DOI] [PubMed] [Google Scholar]
  18. Mensink E. J., Thompson A., Sandkuyl L. A., Kraakman M. E., Schot J. D., Espanol T., Schuurman R. K. X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus. Hum Genet. 1987 May;76(1):96–99. doi: 10.1007/BF00283057. [DOI] [PubMed] [Google Scholar]
  19. Mensink E. J., Thompson A., Schot J. D., van de Greef W. M., Sandkuyl L. A., Schuurman R. K. Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. Hum Genet. 1986 Aug;73(4):327–332. doi: 10.1007/BF00279095. [DOI] [PubMed] [Google Scholar]
  20. Mills E. L., Rholl K. S., Quie P. G. X-linked inheritance in females with chronic granulomatous disease. J Clin Invest. 1980 Aug;66(2):332–340. doi: 10.1172/JCI109861. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Morgan G., Levinsky R. J., Hugh-Jones K., Fairbanks L. D., Morris G. S., Simmonds H. A. Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency. Clin Exp Immunol. 1987 Dec;70(3):491–499. [PMC free article] [PubMed] [Google Scholar]
  22. Newburger P. E., Cohen H. J., Rothchild S. B., Hobbins J. C., Malawista S. E., Mahoney M. J. Prenatal diagnosis of chronic granulomatous disease. N Engl J Med. 1979 Jan 25;300(4):178–181. doi: 10.1056/NEJM197901253000406. [DOI] [PubMed] [Google Scholar]
  23. Peacocke M., Siminovitch K. A. Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome. Proc Natl Acad Sci U S A. 1987 May;84(10):3430–3433. doi: 10.1073/pnas.84.10.3430. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Pearl E. R., Vogler L. B., Okos A. J., Crist W. M., Lawton A. R., 3rd, Cooper M. D. B lymphocyte precursors in human bone marrow: an analysis of normal individuals and patients with antibody-deficiency states. J Immunol. 1978 Apr;120(4):1169–1175. [PubMed] [Google Scholar]
  25. Pérignon J. L., Durandy A., Peter M. O., Freycon F., Dumez Y., Griscelli C. Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies. J Pediatr. 1987 Oct;111(4):595–598. doi: 10.1016/s0022-3476(87)80129-4. [DOI] [PubMed] [Google Scholar]
  26. Royer-Pokora B., Kunkel L. M., Monaco A. P., Goff S. C., Newburger P. E., Baehner R. L., Cole F. S., Curnutte J. T., Orkin S. H. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 1986 Jul 3;322(6074):32–38. doi: 10.1038/322032a0. [DOI] [PubMed] [Google Scholar]
  27. Sakamoto K., Seeley J. K., Lindsten T., Sexton J., Yetz J., Ballow M., Purtilo D. T. Abnormal anti-Epstein Barr virus antibodies in carriers of the X-linked lymphoproliferative syndrome and in females at risk. J Immunol. 1982 Feb;128(2):904–907. [PubMed] [Google Scholar]
  28. Shaham M., Voss R., Becker Y., Yarkoni S., Ornoy A., Kohn G. Prenatal diagnosis of ataxia telangiectasia. J Pediatr. 1982 Jan;100(1):134–137. doi: 10.1016/s0022-3476(82)80253-9. [DOI] [PubMed] [Google Scholar]
  29. White J. G. The Chediak-Higashi syndrome: cytoplasmic sequestration in circulating leukocytes. Blood. 1967 Apr;29(4):435–451. [PubMed] [Google Scholar]
  30. de Préval C., Lisowska-Grospierre B., Loche M., Griscelli C., Mach B. A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes. Nature. 1985 Nov 21;318(6043):291–293. doi: 10.1038/318291a0. [DOI] [PubMed] [Google Scholar]
  31. de Saint Basile G., Arveiler B., Oberlé I., Malcolm S., Levinsky R. J., Lau Y. L., Hofker M., Debre M., Fischer A., Griscelli C. Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7576–7579. doi: 10.1073/pnas.84.21.7576. [DOI] [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES