Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Störungen der Immunglobulinbildung

Mit Störungen der Immunglobulinbildung werden alle Erkrankungen zusammengefasst, die sich anhand einer abnormen Zusammensetzung oder Funktion der Immunglobuline festmachen lassen.

Gliederung

Erbliche immunologische Erkrankungen
Chronisch entzündliche Störungen
Erbliche Complementstörungen
Primärer Immundefekt
Störungen der Immunglobulinbildung
Agammaglobulinämie, x-chromosomal
BTK
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.

None (2001) Physiology of IgA and IgA deficiency.

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2.

Castigli E et. al. (2005) TACI is mutant in common variable immunodeficiency and IgA deficiency.

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3.

Salzer U et. al. (2005) Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

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4.

Martin F et. al. (2005) Unraveling TACIt functions.

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5.

de Laat PC et. al. (1991) Familial selective IgA deficiency with circulating anti-IgA antibodies: a distinct group of patients?

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6.

Schaffer FM et. al. (1989) Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes.

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7.

Hammarström L et. al. (1985) Transfer of IgA deficiency to a bone-marrow-grafted patient with aplastic anaemia.

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8.

Lakhanpal S et. al. (1988) Evidence for linkage of IgA deficiency with the major histocompatibility complex.

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9.

Tomkin GH et. al. (1971) Isolated absence of IgA with autosomal dominant inheritance.

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10.

Goldberg LS et. al. (1968) Selective absence of IgA: a family study.

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11.

Huntley CC et. al. (1968) IgA deficiency: family studies.

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12.

Stocker F et. al. (1968) Selective gamma-A-globulin deficiency, with dominant autosomal inheritance in a Swiss family.

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13.

Hilman BC et. al. (1969) Familial hypogammaglobulinemia-A.

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14.

Webb DR et. al. (1974) Selective immunoglobulin A deficiency and chronic obstructive lung disease. A family study.

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15.

Nell PA et. al. (1972) Familial selective IgA deficiency.

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16.

None (1972) Genetic aspects of selective immunoglobulin A deficiency.

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17.

None (1974) Familial occurrence of isolated IgA deficiency associated with antibodies to IgA. Evidence against a structural gene defect.

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18.

Ammann AJ et. al. (1971) Selective IgA deficiency: presentation of 30 cases and a review of the literature.

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19.

Oen K et. al. (1982) Immunoglobulin A deficiency: genetic studies.

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20.

Stricker RB et. al. (1982) Pernicious anemia, 18q deletion syndrome, and IgA deficiency.

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21.

Oxelius VA et. al. (1981) IgG subclasses in selective IgA deficiency: importance of IgG2-IgA deficiency.

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22.

Smith CI et. al. (1994) X-linked agammaglobulinemia and other immunoglobulin deficiencies.

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23.

Vorechovský I et. al. (1999) Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.

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24.

Vorechovský I et. al. (2000) Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families.

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25.

Sekine H et. al. (2007) Role for Msh5 in the regulation of Ig class switch recombination.

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26.

None (2010) Selective IgA deficiency.

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27.

Ferreira RC et. al. (2010) Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

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28.

Mostoslavsky R et. al. (2001) Asynchronous replication and allelic exclusion in the immune system.

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29.

Kosak ST et. al. (2002) Subnuclear compartmentalization of immunoglobulin loci during lymphocyte development.

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30.

Redegeld FA et. al. (2002) Immunoglobulin-free light chains elicit immediate hypersensitivity-like responses.

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31.

Pandey JP et. al. (2003) Immunoglobulin KM genes in Guillain-Barré syndrome.

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32.

Liang HE et. al. (2004) Variegated transcriptional activation of the immunoglobulin kappa locus in pre-b cells contributes to the allelic exclusion of light-chain expression.

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33.

Liu GB et. al. (2005) The properties of CpG islands in the putative promoter regions of human immunoglobulin (Ig) genes.

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34.

Gimelbrant A et. al. (2007) Widespread monoallelic expression on human autosomes.

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