ArticleBMC medical genetics2016
Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites.
Article in BMC medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Inborn errors of immunity in Low German Mennonite communities in Mexico: a case series and narrative literature review.Frontiers in immunology · 2026Review
- Rare Biallelic Variants Affecting the Interdomain B Region of Zeta-Chain Associated Protein Kinase 70 (ZAP70) Protein in a Sudanese Patient: Case Report.International medical case reports journal · 2024Article
- Trends in the Epidemiology ofJournal of fungi (Basel, Switzerland) · 2023Review
- Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review.Pathogens (Basel, Switzerland) · 2023Review
- Combined immunodeficiency caused by pathogenic variants in theFrontiers in immunology · 2023Article
- Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada.International journal of neonatal screening · 2018Article
- Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary immunodeficiency is a life-threatening genetic disease that appeared to have an increased incidence in Manitoba Mennonites. Determining the genetic basis of this immunodeficiency was an essential step for providing early and appropriate medical intervention.
methodsInitially, DNA from probands affected with primary immunodeficiency and their family members was assessed for linkage to genes previously associated with immunodeficiency. Candidate genes were sequenced to identify the causative mutation. The frequency of the mutation among first and second degree relatives, as well as apparently unrelated community members was analyzed using a PCR-based assay.
resultsA previously described c.1624-11G>A mutation in ZAP70 was identified as the causative mutation in all affected probands that were analyzed. Among 125 study participants of Mennonite descent, 79 genotyped as normal, 39 were carriers and seven were affected. None of 115 non-Mennonite random individuals carried the mutation, whereas one of ten random DNA samples from individuals who self-identified as Mennonite was a carrier.
conclusionsIn collaboration with the target community, we have developed a robust screening test for determining ZAP70 genotype. Early identification of affected individuals has provided an opportunity for timely clinical intervention, while carrier identification has allowed for genetic counselling of at risk couples.
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Registered trials
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