Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt

• Published in: Molecular diagnosis & therapy Vol. 21; no. 6; pp. 677 - 684
• Main Authors: El Hawary, Rabab E., Meshaal, Safa S., Abd Elaziz, Dalia S., Elsharkawy, Marwa A., Alkady, Radwa S., Lotfy, Sohilla, El-Sheikhah, Ahmad, Hassan, Amr, Galal, Nermeen M., Boutros, Jeannette A., Elmarsafy, Aisha M.
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.12.2017; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Cancer Research; Children & youth; Diagnosis; Disease; Disorders; DNA-Binding Proteins - genetics; Egypt; Families & family life; Female; Fetuses; Flow cytometry; Gene sequencing; Genes; Genetic Counseling; Genetic screening; Genetic Testing; Genomics; Heterozygote; Histocompatibility antigen HLA; Human Genetics; Humans; Immune reconstitution; Immune system; Immunodeficiency; Immunologic Deficiency Syndromes - diagnosis; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - psychology; Immunology; Laboratory Medicine; Leukocytes; Management; Molecular Medicine; Mutation; Nuclear Proteins - genetics; Original Research Article; Parents & parenting; Pediatrics; Pedigree; Pharmacotherapy; Pregnancy; Prenatal development; Prenatal diagnosis; Prenatal Diagnosis - methods; Primary immunodeficiencies; Severe Combined Immunodeficiency - diagnosis; Severe Combined Immunodeficiency - genetics; Stem cell transplantation; Systematic review; Tissue typing; Transplantation; United States > US; Cairo Egypt; Egypt
• ISSN: 1177-1062; 1179-2000
• DOI: 10.1007/s40291-017-0297-5

Background Primary 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. Methods Based 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. Results Seven 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. Conclusion In spite of the genetic heterogeneity behind PIDs, genetic counseling should play a critical role in the management and future decisions of affected families.