Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Atopie
Autoimmunerkrankungen
Autoinflammatorische Erkrankungen
Chediak-Higashi-Syndrom
Erbliche Complementstörungen
Griscelli-Syndrom Typ 2
Interferonopathie
Neigung zu Asthma bronchiale
Neigung zu allergischer Rhinitis
Primärer Immundefekt
Schutz vor Graft-versus-host-disease
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.

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

[^]
2.

None (2001) Physiology of IgA and IgA deficiency.

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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

[^]
23.

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

[^]
24.

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.

[^]
25.

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.

[^]
26.

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

[^]
27.

None (2010) Selective IgA deficiency.

[^]
28.

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

[^]
29.

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

[^]
30.

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

[^]
31.

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

[^]
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.

[^]
33.

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

[^]
34.

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

[^]
35.

OMIM.ORG article

Omim 147200 [^]
Update: 9. Mai 2019