Agammaglobulinämie, x-chromosomal
Die x-chromosomal rezessive Gammaglobulinämie ist die häufigste Form der Agammaglobulinämie. Diese Immunstörung wird durch Mutationen des BTK-Gens hervorgerufen, einem wichtigen Steuerungsprotein der B-Zell-Entwicklung.
Gliederung
Referenzen:
1. |
Sakamoto M et al. (2001) Maternal germinal mosaicism of X-linked agammaglobulinemia. [^] |
2. |
Wood PM et al. (2001) A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. [^] |
3. |
van der Meer JW et al. (1986) Campylobacter jejuni bacteraemia as a cause of recurrent fever in a patient with hypogammaglobulinaemia. [^] |
4. |
Cohen DI et al. () Expression of an X-linked gene family (XLR) in late-stage B cells and its alteration by the xid mutation. [^] |
5. |
Kornfeld SJ et al. (1995) X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. [^] |
6. |
Rawlings DJ et al. (1994) Bruton's tyrosine kinase is a key regulator in B-cell development. [^] |
7. |
Vetrie D et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. [^] |
8. |
Lopez Granados E et al. (2002) Clinical and molecular analysis of patients with defects in micro heavy chain gene. [^] |
9. |
JANEWAY CA et al. (1953) Agammaglobulinemia. [^] |
10. |
CRAIG JM et al. (1956) Collagen disease in patients with congenital agammaglobulinemia. [^] |
11. |
HITZIG WH et al. (1961) [Hereditary lymphoplasmocytic dysgenesis ("alymphocytosis with agammaglobulinemia")]. [^] |
12. |
GITLIN D et al. (1963) THE THYMUS AND OTHER LYMPHOID TISSUES IN CONGENITAL AGAMMAGLOBULINEMIA. I. THYMIC ALYMPHOPLASIA AND LYMPHOCYTIC HYPOPLASIA AND THEIR RELATION TO INFECTION. [^] |
13. |
Kerstens PJ et al. (1992) Erysipelas-like skin lesions associated with Campylobacter jejuni septicemia in patients with hypogammaglobulinemia. [^] |
14. |
BRUTON OC et al. (1952) Agammaglobulinemia. [^] |
15. |
Schwaber J et al. (1992) Evidence for failure of V(D)J recombination in bone marrow pre-B cells from X-linked agammaglobulinemia. [^] |
16. |
Journet O et al. (1992) Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. [^] |
17. |
Ferrari S et al. (2007) Mutations of the Igbeta gene cause agammaglobulinemia in man. [^] |
18. |
Ament ME et al. (1973) Structure and function of the gastrointestinal tract in primary immunodeficiency syndromes. A study of 39 patients. [^] |
19. |
Garvie JM et al. (1961) Congenital Agammaglobulinaemia. [^] |
20. |
Kwan SP et al. (1990) Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus. [^] |
21. |
Thorsteinsson L et al. (1990) The first Icelandic family with X-linked agammaglobulinaemia: studies of genetic markers and immune function. [^] |
22. |
Hendriks RW et al. (1989) Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia. [^] |
23. |
Guioli S et al. (1989) Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. [^] |
24. |
Lederman HM et al. (1985) X-linked agammaglobulinemia: an analysis of 96 patients. [^] |
25. |
Edwards NL et al. (1978) Lymphocyte ecto-5'-nucleotidase deficiency in agammaglobulinemia. [^] |
26. |
Schwaber J et al. (1988) Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia. [^] |
27. |
Ott J et al. (1986) Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci. [^] |
28. |
Fearon ER et al. (1987) Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. [^] |
29. |
Mensink EJ et al. (1987) Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis. [^] |
30. |
Malcolm S et al. (1987) Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA). [^] |
31. |
Schuurman RK et al. (1988) Early diagnosis in X-linked agammaglobulinaemia. [^] |
32. |
Kwan SP et al. (1986) Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. [^] |
33. |
Schwaber J et al. (1988) B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers. [^] |
34. |
Schwaber J et al. (1988) Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion. [^] |
35. |
Saulsbury FT et al. (1979) Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia. [^] |
36. |
Lau YL et al. (1988) Genetic prediction in X-linked agammaglobulinaemia. [^] |
37. |
McKinney RE et al. () Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. [^] |
38. |
Pearl ER et al. (1978) B lymphocyte precursors in human bone marrow: an analysis of normal individuals and patients with antibody-deficiency states. [^] |
39. |
Conley ME et al. (1986) Expression of the gene defect in X-linked agammaglobulinemia. [^] |
40. |
Mensink EJ et al. (1986) Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. [^] |
41. |
Landreth KS et al. (1985) Pre-B cells in agammaglobulinemia: evidence for disease heterogeneity among affected boys. [^] |
42. |
Erlendsson K et al. (1985) Successful reversal of echovirus encephalitis in X-linked hypogammaglobulinemia by intraventricular administration of immunoglobulin. [^] |
43. |
Geha RS et al. (1973) Identification and characterization of subpopulations of lymphocytes in human peripheral blood after fractionation on discontinuous gradients of albumin. The cellular defect in X-linked agammaglobulinemia. [^] |
44. |
Seligmann M et al. (1968) A proposed classification of primary immunologic deficiencies. [^] |
45. |
Schwaber J et al. () Early pre-B cells from normal and X-linked agammaglobulinaemia produce C mu without an attached VH region. [^] |
46. |
Rosen FS et al. (1984) The primary immunodeficiencies (1). [^] |
47. |
Thompson LF et al. (1980) Ecto-5'-nucleotidase activity in lymphoblastoid cell lines derived from heterozygotes for congenital X-linked agammaglobulinemia. [^] |
48. |
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. [^] |
49. |
Mensink EJ et al. (1984) X-linked agammaglobulinemia and the red blood cell determinants Xg and 12E7 are not closely linked. [^] |
50. |
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. [^] |
51. |
Perryman LE et al. (1983) Animal model of human disease. Infantile X-linked agammaglobulinemia. Agammaglobulinemia in horses. [^] |
52. |
Melamed I et al. (1983) Campylobacter enteritis in normal and immunodeficient children. [^] |
53. |
Allen RC et al. (1994) Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. [^] |
54. |
van der Meer JW et al. (1993) Colorectal cancer in patients with X-linked agammaglobulinaemia. [^] |
55. |
Rudge P et al. (1996) Encephalomyelitis in primary hypogammaglobulinaemia. [^] |
56. |
Ochs HD et al. (1996) X-linked agammaglobulinemia. A clinical and molecular analysis. [^] |