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Heterozygous Missense Mutation in the Coiled-Coil Domain of STAT5B

ABSTRACT:

We describe one patient with a heterozygous missense mutation in the coiled-coil domain of STAT5B. This patient presented with leukocytosis, lymphadenopathy, splenomegaly, necrotizing granulomas, hyper-IgM and autoimmune thrombocytopenia. Mutant STAT5B protein was shown to dominantly-interfere with IL2-induced transcriptional activity resulting in global downregulation of STAT5-regulated genes in patient T cells. The patient exhibited an increase in CD4+ T effector memory cells in the peripheral blood and these cells were resistant to restimulation-induced cell death in vitro.

PROVIDER: phs001479 | dbGaP |

SECONDARY ACCESSION(S): PRJNA416162PRJNA416163

REPOSITORIES: dbGaP

ACCESS DATA

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Dataset's files

Source:

			Action	DRS
	GapExchange_phs001479.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001479.STAT5B_ImmunodysregulatoryDisorder.v1.p1.MULTI.pdf	Pdf
	manifest_phs001479.STAT5B_ImmunodysregulatoryDisorder.v1.p1.c1.GRU-IRB.pdf	Pdf
	datadict_v2.xsl	Other

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