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Single allele AND Combined immunodeficiency due to DOCK8 deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000210049.3

Allele description [Variation Report for Single allele]

Genes:
  • LOC130001439:ATAC-STARR-seq lymphoblastoid active region 28115 [Gene]
  • LOC130001440:ATAC-STARR-seq lymphoblastoid active region 28116 [Gene]
  • LOC130001435:ATAC-STARR-seq lymphoblastoid silent region 19720 [Gene]
  • LOC130001436:ATAC-STARR-seq lymphoblastoid silent region 19721 [Gene]
  • LOC130001437:ATAC-STARR-seq lymphoblastoid silent region 19722 [Gene]
  • LOC130001438:ATAC-STARR-seq lymphoblastoid silent region 19723 [Gene]
  • LOC126860552:BRD4-independent group 4 enhancer GRCh37_chr9:285795-286994 [Gene]
  • DOCK8-AS1:DOCK8 antisense RNA 1 [Gene - HGNC]
  • DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9p24.3
Genomic location:
HGVS:
  • NC_000009.12:g.204193_343954del
  • NC_000009.11:g.204193_343954del
Observations:
2

Condition(s)

Name:
Combined immunodeficiency due to DOCK8 deficiency (HIES2)
Synonyms:
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; HIES autosomal recessive; Hyper-IgE recurrent infection syndrome, autosomal recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009478; MedGen: C4722305; Orphanet: 217390; OMIM: 243700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000257461Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
criteria provided, single submitter

(Kienzler et al. (Clin Immunol. 2016))		Pathogenic
(Aug 25, 2015) 		paternal, germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno1not providednot provided1noclinical testing
not providedpaternalyes1not providednot provided1noclinical testing

Citations

PubMed

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Kienzler AK, van Schouwenburg PA, Taylor J, Marwah I, Sharma RU, Noakes C, Thomson K, Sadler R, Segal S, Ferry B, Taylor JC, Blair E, Chapel H, Patel SY.

Clin Immunol. 2016 Feb;163:17-21. doi: 10.1016/j.clim.2015.12.003. Epub 2015 Dec 8.

PubMed [citation]
PMID:
26680607
PMCID:
PMC4758821

Details of each submission

From Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, SCV000257461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
2not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1not providednot provided1not providednot providednot provided
2germlineno1not providednot provided1not providednot providednot provided

Last Updated: Oct 21, 2023