Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Immunoglobulin disorders

Immunoglobulin disorders is a group of disorders that can be portrayed by abnormal immunoglobulin composition or function.

Systematic

Hereditary immunological disorders
Atopy
Chronic inflammatory disorders
Hereditary complement disorders
Immunoglobulin disorders
Agammaglobulinemia, X-linked
BTK
Hyper-IgM syndrome
Hyper-IgM syndrome 1
CD40LG
Hyper-IgM syndrome 2
AICDA
Hyper-IgM syndrome 3
CD40
Hyper-IgM syndrome 4
Hyper-IgM syndrome 5
UNG
Primary immunodeficiency
Susceptibility to allergic rhinitis
Susceptibility to asthma

References:

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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Update: Sept. 26, 2018