Genetics of Human X-linked Immunodeficiency Diseases

Overview

Journal Clin Exp Immunol

Publisher Oxford University Press

Specialty Allergy & Immunology

Date 1991 Aug 1

PMID 1863997

Citations 5

Authors

R W Hendriks

R K Schuurman

Affiliations

Soon will be listed here.

Citing Articles

Knockout of Results in a Sex Ratio Shift toward Males but Superovulation Cannot Compensate for the Reduced Litter Size.

Peng J, Hou Y, Wu S, Li Z, Wu Z Animals (Basel). 2023; 13(6).

PMID: 36978620 PMC: 10044649. DOI: 10.3390/ani13061079.

Bone marrow cells in X-linked agammaglobulinemia express pre-B-specific genes (lambda-like and V pre-B) and present immunoglobulin V-D-J gene usage strongly biased to a fetal-like repertoire.

Milili M, Le Deist F, de Saint-Basile G, Fischer A, Fougereau M, Schiff C J Clin Invest. 1993; 91(4):1616-29.

PMID: 8473505 PMC: 288139. DOI: 10.1172/JCI116369.

X chromosome inactivation analysis to distinguish sporadic cases of X-linked agammaglobulinaemia from common variable immunodeficiency.

Tsuge I, Matsuoka H, Abe T, Kamachi Y, Torii S Eur J Pediatr. 1993; 152(11):900-4.

PMID: 8276019 DOI: 10.1007/BF01957526.

Mapping of the X linked form of hyper IgM syndrome (HIGM1).

Padayachee M, Levinsky R, Kinnon C, Finn A, McKeown C, Feighery C J Med Genet. 1993; 30(3):202-5.

PMID: 8097258 PMC: 1016299. DOI: 10.1136/jmg.30.3.202.

Differential methylation at the 5' and the 3' CCGG sites flanking the X chromosomal hypervariable DXS255 locus.

Hendriks R, Kraakman M, Mensink R, Schuurman R Hum Genet. 1991; 88(1):105-11.

PMID: 1959916 DOI: 10.1007/BF00204939.

References

Mensink E, Thompson A, Sandkuyl L, Kraakman M, Schot J, Espanol T . X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus. Hum Genet. 1987; 76(1):96-9. DOI: 10.1007/BF00283057. View

Keith D, Singer-Sam J, Riggs A . Active X chromosome DNA is unmethylated at eight CCGG sites clustered in a guanine-plus-cytosine-rich island at the 5' end of the gene for phosphoglycerate kinase. Mol Cell Biol. 1986; 6(11):4122-5. PMC: 367182. DOI: 10.1128/mcb.6.11.4122-4125.1986. View

Kwan S, Kunkel L, Bruns G, Wedgwood R, Latt S, Rosen F . Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest. 1986; 77(2):649-52. PMC: 423409. DOI: 10.1172/JCI112351. View

Grierson H, Purtilo D . Epstein-Barr virus infections in males with the X-linked lymphoproliferative syndrome. Ann Intern Med. 1987; 106(4):538-45. DOI: 10.7326/0003-4819-106-4-538. View

Hirschhorn R . Inherited enzyme deficiencies and immunodeficiency: adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies. Clin Immunol Immunopathol. 1986; 40(1):157-65. DOI: 10.1016/0090-1229(86)90081-4. View

Mensink E, Schuurman R, Schot J, Thompson A, Alt F . Immunoglobulin heavy chain gene rearrangements in X-linked agammaglobulinemia. Eur J Immunol. 1986; 16(8):963-7. DOI: 10.1002/eji.1830160815. View

Mayer L, Kwan S, Thompson C, Ko H, Chiorazzi N, Waldmann T . Evidence for a defect in "switch" T cells in patients with immunodeficiency and hyperimmunoglobulinemia M. N Engl J Med. 1986; 314(7):409-13. DOI: 10.1056/NEJM198602133140703. View

de Saint Basile G, Arveiler B, Fraser N, Boyd Y, Graig I, Griscelli G . Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome. Lancet. 1989; 2(8675):1319-21. DOI: 10.1016/s0140-6736(89)91920-x. View

Hendriks R, Mensink E, Kraakman M, Thompson A, Schuurman R . Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia. Hum Genet. 1989; 83(3):267-70. DOI: 10.1007/BF00285169. View

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Goundis D, Holt S, Boyd Y, Reid K . Localization of the properdin structural locus to Xp11.23-Xp21.1. Genomics. 1989; 5(1):56-60. DOI: 10.1016/0888-7543(89)90085-2. View

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Fraser N, Boyd Y, Craig I . Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22. Genomics. 1989; 5(1):144-8. DOI: 10.1016/0888-7543(89)90099-2. View

12.

Skare J, Grierson H, Sullivan J, Nussbaum R, Purtilo D, Sylla B . Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum Genet. 1989; 82(4):354-8. DOI: 10.1007/BF00273997. View

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Puck J, Nussbaum R, Smead D, Conley M . X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. Am J Hum Genet. 1989; 44(5):724-30. PMC: 1715634. View

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Greer W, Kwong P, Peacocke M, Ip P, Rubin L, Siminovitch K . X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect. Genomics. 1989; 4(1):60-7. DOI: 10.1016/0888-7543(89)90315-7. View

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Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G . Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet. 1989; 51(1-4):622-947. DOI: 10.1159/000132810. View

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Goodship J, Levinsky R, Malcolm S . Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male. Hum Genet. 1989; 84(1):11-4. DOI: 10.1007/BF00210662. View

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Chatila T, Wong R, Young M, Miller R, Terhorst C, Geha R . An immunodeficiency characterized by defective signal transduction in T lymphocytes. N Engl J Med. 1989; 320(11):696-702. DOI: 10.1056/NEJM198903163201104. View

18.

Anker R, Conley M, Pollok B . Clonal diversity in the B cell repertoire of patients with X-linked agammaglobulinemia. J Exp Med. 1989; 169(6):2109-19. PMC: 2189345. DOI: 10.1084/jem.169.6.2109. View

19.

Donner M, Schwartz M, Carlsson K, Holmberg L . Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood. 1988; 72(6):1849-53. View

20.

Malcolm S, de Saint Basile G, Arveiler B, Lau Y, Szabo P, Fischer A . Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA). Hum Genet. 1987; 77(2):172-4. DOI: 10.1007/BF00272387. View