Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyper-IgM-Syndrom 1

Hyper-IgM-Syndrom 1 ist eine x-chromosomal rezessive Erkrankung die durch Mutationen im CD40LG-Gen hervorgerufen wird. Klinisch ist sie charakterisiert durch erhöhtes Immunglobulin IgM und eine Infektanfälligkeit.

Gliederung

Hyper-IgM-Syndrom
Hyper-IgM-Syndrom 1
CD40LG
Hyper-IgM-Syndrom 2
Hyper-IgM-Syndrom 3
Hyper-IgM-Syndrom 4
Hyper-IgM-Syndrom 5

Referenzen:

1.

Graf D et. al. (1992) Cloning of TRAP, a ligand for CD40 on human T cells.

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2.

Padayachee M et. al. (1992) Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT.

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3.

Kraakman ME et. al. (1995) Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.

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4.

Aruffo A et. al. (1993) The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.

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5.

Korthäuer U et. al. (1993) Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.

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6.

Allen RC et. al. (1993) CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.

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7.

Kroczek RA et. al. (1994) Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".

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8.

Pilia G et. al. (1994) Human CD40L gene maps between DXS144E and DXS300 in Xq26.

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9.

Padayachee M et. al. (1993) Mapping of the X linked form of hyper IgM syndrome (HIGM1)

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10.

Lin Q et. al. (1996) A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

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11.

Bossaller L et. al. (2006) ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells.

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12.

Mayer L et. al. (1986) Evidence for a defect in "switch" T cells in patients with immunodeficiency and hyperimmunoglobulinemia M.

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13.

Cooper MD et. al. (1974) Meeting report of the Second International Workshop on Primary Immunodeficiency Disease in Man held in St. Petersburg, Florida, February, 1973.

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14.

Fudenberg HH et. al. (1970) Classification of the primary immune deficiencies: WHO recommendation.

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15.

Brahmi Z et. al. (1983) Immunologic studies of three family members with the immunodeficiency with hyper-IgM syndrome.

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16.

Levitt D et. al. (1983) Hyper IgM immunodeficiency. A primary dysfunction of B lymphocyte isotype switching.

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17.

Hollenbaugh D et. al. (1994) The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.

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18.

Thomas C et. al. (1995) Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation.

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19.

Fuleihan R et. al. (1993) Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM.

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20.

Xu J et. al. (1994) Mice deficient for the CD40 ligand.

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21.

None (1994) X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome.

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22.

Hayward AR et. al. (1997) Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM.

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23.

Levy J et. al. (1997) Clinical spectrum of X-linked hyper-IgM syndrome.

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24.

Cunningham CK et. al. (1999) Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome.

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25.

Hadzić N et. al. (2000) Correction of the hyper-IgM syndrome after liver and bone marrow transplantation.

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26.

Gennery AR et. al. (2000) T-cell-depleted bone marrow transplantation from unrelated donor for [correction of allogeneic sibling for] X-linked hyperimmunoglobulin M syndrome.

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27.

André P et. al. (2002) CD40L stabilizes arterial thrombi by a beta3 integrin--dependent mechanism.

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28.

GLEICH GJ et. al. (1965) DYSGAMMAGLOBULINEMIA IN THE PRESENCE OF PLASMA CELLS.

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29.

JAMIESON WM et. al. (1962) A family with several cases of hypogammaglobulinaemia.

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30.

Aschermann Z et. al. (2007) X-linked hyper-IgM syndrome associated with a rapid course of multifocal leukoencephalopathy.

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31.

Hasegawa S et. al. (2014) Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.

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32.

Kyong CU et. al. (1978) X-linked immunodeficiency with increased IgM: clinical, ethnic, and immunologic heterogeneity.

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33.

Notarangelo LD et. al. (1992) Immunodeficiency with hyper-IgM (HIM).

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34.

Notarangelo LD et. al. (1991) Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages.

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35.

Hendriks RW et. al. (1990) Evidence that in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact.

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36.

Mensink EJ et. al. (1987) X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus.

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