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DOCK8 deficiency information


DOCK8 deficiency
Other namesCombined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency, CID due to DOCK8 deficiency
DOCKS deficiency is autosomal recessive

DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia, and recurrent infections with staphylococcus and viruses. It is caused by a mutation in the DOCK8 gene.

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DOCK8 deficiency

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DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized...

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Dedicator of cytokinesis protein 8

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Dedicator of cytokinesis protein 8 (Dock8) is a large (~190 kDa) protein encoded in the human by the DOCK8 gene, involved in intracellular signalling networks...

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List of primary immunodeficiencies

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MAGT1 deficiency DOCK2 deficiency DOCK8 deficiency RhoH deficiency Activated PI3K delta syndrome MALT1 deficiency BCL10 deficiency BCL11B deficiency CARD11...

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Hyperimmunoglobulin E syndrome

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testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2...

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List of OMIM disorder codes

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20-lyase deficiency; 202110; CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1 17-beta-hydroxysteroid dehydrogenase X deficiency; 300438;...

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Eosinophilia

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eosinophilia due to mutations in any one of the following genes: STAT3, DOCK8, PGM3, SPINK5, and TYK2 (see mutations in the hymperimmoglobulin E syndrome)...

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