Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyper-IgM-Syndrom

Das Hyper-IgM-Syndrom ist eine Gruppe von Erkrankungen, die durch besonders hohe Spiegel des Immunglobulin IgM auffallen. Die gemeinsame Ursache liegt in eines Synthesestörung von anderen spezifischeren Immunglobulinen (IgA, IgG und IgE) im Rahmen des Immunglobulin-Klassenwechsel. Klinisch sind die Patienten meist durch eine erhöhte Infektanfälligkeit charakterisiert.

Gliederung

Störungen der Immunglobulinbildung
Agammaglobulinämie, x-chromosomal
Hyper-IgM-Syndrom
Hyper-IgM-Syndrom 1
CD40LG
Hyper-IgM-Syndrom 2
AICDA
Hyper-IgM-Syndrom 3
CD40
Hyper-IgM-Syndrom 4
Hyper-IgM-Syndrom 5
UNG

Referenzen:

1.

Castigli E et. al. (1994) CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation.

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2.

Kawabe T et. al. (1994) The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation.

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3.

Ferrari S et. al. (2001) Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

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4.

Kutukculer N et. al. (2003) Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.

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5.

Mazzolari E et. al. (2007) First report of successful stem cell transplantation in a child with CD40 deficiency.

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6.

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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7.

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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8.

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

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9.

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

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10.

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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11.

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

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12.

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

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13.

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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14.

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

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15.

Revy P et. al. (1998) Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells.

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16.

Kutukculer N et. al. (2003) Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency.

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17.

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

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18.

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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19.

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

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20.

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

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21.

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

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22.

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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23.

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

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24.

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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25.

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

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26.

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

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27.

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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28.

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

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29.

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

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30.

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

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31.

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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32.

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

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33.

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

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34.

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

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35.

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

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36.

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

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