X-linked recessive agammaglobulinemia is the most common form (15%) of agammaglobulinemia. This immunodeficiency syndrome is caused by mutations of the BTK gene, a key regulator of B cell development.
2. |
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3. |
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4. |
Kwan SP et al. (1986) Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. |
5. |
Schwaber J et al. (1988) B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers. |
6. |
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7. |
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8. |
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9. |
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10. |
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11. |
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12. |
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13. |
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14. |
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15. |
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16. |
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17. |
Schwaber J et al. () Early pre-B cells from normal and X-linked agammaglobulinaemia produce C mu without an attached VH region. |
18. |
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19. |
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20. |
Levitt D et al. (1984) Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM. |
21. |
Mensink EJ et al. (1984) X-linked agammaglobulinemia and the red blood cell determinants Xg and 12E7 are not closely linked. |
22. |
Mease PJ et al. (1981) Successful treatment of echovirus meningoencephalitis and myositis-fasciitis with intravenous immune globulin therapy in a patient with X-linked agammaglobulinemia. |
23. |
Perryman LE et al. (1983) Animal model of human disease. Infantile X-linked agammaglobulinemia. Agammaglobulinemia in horses. |
24. |
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25. |
Allen RC et al. (1994) Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. |
26. |
van der Meer JW et al. (1993) Colorectal cancer in patients with X-linked agammaglobulinaemia. |
27. |
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28. |
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29. |
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30. |
Sakamoto M et al. (2001) Maternal germinal mosaicism of X-linked agammaglobulinemia. |
31. |
van der Meer JW et al. (1986) Campylobacter jejuni bacteraemia as a cause of recurrent fever in a patient with hypogammaglobulinaemia. |
32. |
Cohen DI et al. () Expression of an X-linked gene family (XLR) in late-stage B cells and its alteration by the xid mutation. |
33. |
Kornfeld SJ et al. (1995) X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. |
34. |
Rawlings DJ et al. (1994) Bruton's tyrosine kinase is a key regulator in B-cell development. |
35. |
Vetrie D et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. |
36. |
Lopez Granados E et al. (2002) Clinical and molecular analysis of patients with defects in micro heavy chain gene. |
37. |
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38. |
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39. |
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40. |
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41. |
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42. |
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43. |
None (1992) Evidence for failure of V(D)J recombination in bone marrow pre-B cells from X-linked agammaglobulinemia. |
44. |
Journet O et al. (1992) Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. |
45. |
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46. |
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47. |
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48. |
Kwan SP et al. (1990) Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus. |
49. |
Thorsteinsson L et al. (1990) The first Icelandic family with X-linked agammaglobulinaemia: studies of genetic markers and immune function. |
50. |
Hendriks RW et al. (1989) Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia. |
51. |
Guioli S et al. (1989) Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. |
52. |
Lederman HM et al. (1985) X-linked agammaglobulinemia: an analysis of 96 patients. |
53. |
Edwards NL et al. (1978) Lymphocyte ecto-5'-nucleotidase deficiency in agammaglobulinemia. |
54. |
Schwaber J et al. (1988) Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia. |
55. |
Ott J et al. (1986) Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci. |
56. |
Mensink EJ et al. (1987) Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis. |
57. |
OMIM.ORG article Omim 300755 |