Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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

Störungen der Immunglobulinbildung
Agammaglobulinämie, x-chromosomal
BTK
Hyper-IgM-Syndrom

Referenzen:

1.

Sakamoto M et al. (2001) Maternal germinal mosaicism of X-linked agammaglobulinemia.

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2.

Wood PM et al. (2001) A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.

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3.

van der Meer JW et al. (1986) Campylobacter jejuni bacteraemia as a cause of recurrent fever in a patient with hypogammaglobulinaemia.

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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.

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5.

Kornfeld SJ et al. (1995) X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy.

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6.

Rawlings DJ et al. (1994) Bruton's tyrosine kinase is a key regulator in B-cell development.

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7.

Vetrie D et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.

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8.

Lopez Granados E et al. (2002) Clinical and molecular analysis of patients with defects in micro heavy chain gene.

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9.

JANEWAY CA et al. (1953) Agammaglobulinemia.

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10.

CRAIG JM et al. (1956) Collagen disease in patients with congenital agammaglobulinemia.

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11.

HITZIG WH et al. (1961) [Hereditary lymphoplasmocytic dysgenesis ("alymphocytosis with agammaglobulinemia")].

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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.

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13.

Kerstens PJ et al. (1992) Erysipelas-like skin lesions associated with Campylobacter jejuni septicemia in patients with hypogammaglobulinemia.

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14.

BRUTON OC et al. (1952) Agammaglobulinemia.

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15.

Schwaber J et al. (1992) Evidence for failure of V(D)J recombination in bone marrow pre-B cells from X-linked agammaglobulinemia.

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16.

Journet O et al. (1992) Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.

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17.

Ferrari S et al. (2007) Mutations of the Igbeta gene cause agammaglobulinemia in man.

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18.

Ament ME et al. (1973) Structure and function of the gastrointestinal tract in primary immunodeficiency syndromes. A study of 39 patients.

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19.

Garvie JM et al. (1961) Congenital Agammaglobulinaemia.

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20.

Kwan SP et al. (1990) Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus.

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21.

Thorsteinsson L et al. (1990) The first Icelandic family with X-linked agammaglobulinaemia: studies of genetic markers and immune function.

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22.

Hendriks RW et al. (1989) Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia.

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23.

Guioli S et al. (1989) Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.

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24.

Lederman HM et al. (1985) X-linked agammaglobulinemia: an analysis of 96 patients.

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25.

Edwards NL et al. (1978) Lymphocyte ecto-5'-nucleotidase deficiency in agammaglobulinemia.

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26.

Schwaber J et al. (1988) Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia.

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27.

Ott J et al. (1986) Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci.

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28.

Fearon ER et al. (1987) Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation.

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29.

Mensink EJ et al. (1987) Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.

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30.

Malcolm S et al. (1987) Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).

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31.

Schuurman RK et al. (1988) Early diagnosis in X-linked agammaglobulinaemia.

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32.

Kwan SP et al. (1986) Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.

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33.

Schwaber J et al. (1988) B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers.

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34.

Schwaber J et al. (1988) Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion.

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35.

Saulsbury FT et al. (1979) Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia.

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36.

Lau YL et al. (1988) Genetic prediction in X-linked agammaglobulinaemia.

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37.

McKinney RE et al. () Chronic enteroviral meningoencephalitis in agammaglobulinemic patients.

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38.

Pearl ER et al. (1978) B lymphocyte precursors in human bone marrow: an analysis of normal individuals and patients with antibody-deficiency states.

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39.

Conley ME et al. (1986) Expression of the gene defect in X-linked agammaglobulinemia.

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40.

Mensink EJ et al. (1986) Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity.

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41.

Landreth KS et al. (1985) Pre-B cells in agammaglobulinemia: evidence for disease heterogeneity among affected boys.

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42.

Erlendsson K et al. (1985) Successful reversal of echovirus encephalitis in X-linked hypogammaglobulinemia by intraventricular administration of immunoglobulin.

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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.

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44.

Seligmann M et al. (1968) A proposed classification of primary immunologic deficiencies.

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45.

Schwaber J et al. () Early pre-B cells from normal and X-linked agammaglobulinaemia produce C mu without an attached VH region.

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46.

Rosen FS et al. (1984) The primary immunodeficiencies (1).

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47.

Thompson LF et al. (1980) Ecto-5'-nucleotidase activity in lymphoblastoid cell lines derived from heterozygotes for congenital X-linked agammaglobulinemia.

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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.

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49.

Mensink EJ et al. (1984) X-linked agammaglobulinemia and the red blood cell determinants Xg and 12E7 are not closely linked.

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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.

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51.

Perryman LE et al. (1983) Animal model of human disease. Infantile X-linked agammaglobulinemia. Agammaglobulinemia in horses.

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52.

Melamed I et al. (1983) Campylobacter enteritis in normal and immunodeficient children.

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53.

Allen RC et al. (1994) Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.

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54.

van der Meer JW et al. (1993) Colorectal cancer in patients with X-linked agammaglobulinaemia.

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55.

Rudge P et al. (1996) Encephalomyelitis in primary hypogammaglobulinaemia.

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56.

Ochs HD et al. (1996) X-linked agammaglobulinemia. A clinical and molecular analysis.

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