ArticleMolecular diagnosis & therapy2017
Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.
Article in Molecular diagnosis & therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children.Journal of clinical immunology · 2024Article
- Chronic Granulomatous Disease: a Cohort of 173 Patients-10-Years Single Center Experience from Egypt.Journal of clinical immunology · 2023Article
- Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study.Frontiers in immunology · 2023Article
- Flow cytometry optimizing the diagnostic approach in inborn errors of immunity: experience from Egypt.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- The Special Features of Prenatal and Preimplantation Genetic Counseling in Arab Countries.Genes · 2022Review
- Whole-exome sequencing of TClinical and experimental immunology · 2021Article
- Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.Frontiers in immunology · 2021Article
- Recommendations for the development of Egyptian human biobanking ethical guidelines.Wellcome open research · 2021Article
- Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.Clinical and experimental immunology · 2019Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary immunodeficiency disorders (PIDs) are a heterogeneous group of diseases of the immune system leading to life-threatening infections, and, unless urgently treated with immune reconstitution, patients do not usually survive. With the continuing progress in molecular diagnosis, many mutations have been described in more than 300 genes. Genetic counseling has recently been considered an essential part of the management of PIDs. This study presents the experience of genetic counseling services in the largest PID center in Egypt, and reports on our management plan and the impact of prenatal diagnosis (PND) on families.
methodsBased on the biochemical and molecular diagnosis of index cases, PND was offered for 10 families in 12 subsequent pregnancies. Five different genes were sequenced by Sanger sequencing in fetal samples.
resultsSeven fetuses were either normal or were carriers, while five fetuses were affected and human leukocyte antigen typing was performed, seeking a suitably related donor for stem cell transplantation.
conclusionIn spite of the genetic heterogeneity behind PIDs, genetic counseling should play a critical role in the management and future decisions of affected families.
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