ArticleJournal of clinical immunology2017
Incidence of typically Severe Primary Immunodeficiency Diseases in Consanguineous and Non-consanguineous Populations.
Article in Journal of clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity.Clinical and experimental immunology · 2026Article
- Inborn errors of immunity in Low German Mennonite communities in Mexico: a case series and narrative literature review.Frontiers in immunology · 2026Review
- Genetic disorders caused by consanguineous marriage in Radfan districts - Yemen.BMC medical genomics · 2025Article
- Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg.Paediatrics & child health · 2025Article
- Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.World journal of pediatrics : WJP · 2024Article
- Zellweger's Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect.Cureus · 2023Article
- Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.Immunologic research · 2022Article
- Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy.Immunologic research · 2021Article
- A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia.Immunologic research · 2021Article
- Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities.Orphanet journal of rare diseases · 2020Article
- Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.Genes and immunity · 2020Article
- Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients WithFrontiers in immunology · 2019Article
- Ataxia telangiectasia mutated kinase deficiency impairs the autophagic response early during myocardial infarction.American journal of physiology. Heart and circulatory physiology · 2018Article
- First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.Frontiers in immunology · 2017Article
- Improving the management of people with bronchiectasis in Saudi: A new beginning.Annals of thoracic medicineArticle
- Minor Clinical Impact of COVID-19 Pandemic on Patients With Primary Immunodeficiency in Israel.Frontiers in immunologyArticle
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePrimary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations.
methodsA retrospective analysis of all typically severe primary immunodeficiency diseases evaluated at a single center from January 1, 1996 to December 31, 2016. The amount of live births by population was the denominator for calculating the incidences by population.
resultsA total of 95 patients were included, 85 of Bedouin and 10 of Jewish ethnicities. There were 152,331 births in the Bedouin and 160,998 births in the Jewish populations. The total incidence of typically severe primary immunodeficiency diseases was higher in the Bedouin population than expected based on previous studies. The total incidences were 55.8/10
conclusionsTypically, severe primary immunodeficiency diseases are not rare diseases in a consanguineous population; these diseases are significantly more common in the Bedouin population. This finding is probably also applicable to other consanguineous populations, and in these populations, primary immunodeficiency diseases should not be regarded as rare diseases.
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