RGD Reference Report - Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

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Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.
Authors:	Dasouki, Majed Okonkwo, Kingsley C Ray, Abhishek Folmsbeel, Caspian K Gozales, Diana Keles, Sevgi Puck, Jennifer M Chatila, Talal
Citation:	Dasouki M, etal., Clin Immunol. 2011 Nov;141(2):128-32. doi: 10.1016/j.clim.2011.06.003. Epub 2011 Jun 21.
RGD ID:	40907054
Pubmed:	PMID:21763205 (View Abstract at PubMed)
PMCID:	PMC4210456 (View Article at PubMed Central)
DOI:	DOI:10.1016/j.clim.2011.06.003 (Journal Full-text)
Loss of function of DOCK8 is the major cause of autosomal recessive hyper IgE syndrome, a primary immunodeficiency with adaptive and innate immune dysfunction. Patients affected with ARHIES have atopic dermatitis and recurrent, potentially life-threatening viral and bacterial infections. Three consanguineous Pakistani siblings presented with severe atopic dermatitis and superinfection. Direct sequencing of DOCK8 in all three affected siblings demonstrated homozygosity for a deleterious, novel exon 14 frame shift mutation. Current newborn screening for severe combined immunodeficiency syndrome (SCID) and related T cell disorders relies on the quantitation of T Cell Receptor Excision Cells (TRECs) in dried blood spots (DBS). Significantly, both older affected siblings had undetectable TRECs, and TREC copy number was reduced in the youngest sibling. These findings suggest that AR-HIES may be detected by TREC newborn screening, and this diagnosis should be considered in the evaluation of newborns with abnormal TRECs who do not have typical SCID.

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
DOCK8	Human	hyper IgE recurrent infection syndrome 2		IAGP		DNA:mutation:cds:	RGD
Dock8	Mouse	hyper IgE recurrent infection syndrome 2		ISO	DOCK8 (Homo sapiens)	DNA:mutation:cds:	RGD
Dock8	Rat	hyper IgE recurrent infection syndrome 2		ISO	DOCK8 (Homo sapiens)	DNA:mutation:cds:	RGD

Objects Annotated

Genes (Rattus norvegicus)

Dock8 (dedicator of cytokinesis 8)

Genes (Mus musculus)

Dock8 (dedicator of cytokinesis 8)

Genes (Homo sapiens)

DOCK8 (dedicator of cytokinesis 8)

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Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.