Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing

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Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing Publisher Pubmed

Karimi E^{1, 2} ; Mahmoudian F³ ; Reyes SOL⁴ ; Bargir UA⁵ ; Madkaikar M⁵ ; Artac H⁶ ; Sabzevari A⁷ ; Lu N⁸ ; Azizi G⁹ ; Abolhassani H^{2, 10, 11}

Show Affiliations

1. Department of Cellular and Molecular Medicine, College of Medicine, University of Arizona, Tucson, 85721, AZ, United States
2. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran
3. Department of Molecular Medicine, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran
4. Immune Deficiencies Lab, National Institute of Pediatrics, Mexico City, Mexico
5. Department of Pediatric Immunology and Leukocyte Biology, ICMR-National Institute of Immunohaematology, Mumbai, India
6. Department of Pediatric Immunology and Allergy, Faculty of Medicine, Selcuk University, Konya, Turkey
7. CinnaGen Medical Biotechnology Research Center, Alborz University of Medical Sciences, Karaj, Iran
8. State Key Lab of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing, China
9. Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
10. Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden
11. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden

Source: Molecular Immunology Published:2021

Abstract

Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and immunological phenotype, therefore a correct molecular diagnosis is crucial for the classification and subsequent therapeutic management. On the other hand, IEI are a group of rare congenital diseases with highly diverse features and, in most cases, an as yet unknown genetic etiology. Next generation sequencing has facilitated genetic examinations of rare inherited disorders during the recent years, thus allowing a suitable molecular diagnosis in the IEI patients. This review aimed to investigate the current findings about these techniques in the field of IEI, suggesting an efficient stepwise approach to molecular diagnosis of inborn errors of immunity. © 2021

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Style	Citing Format
MLA	Karimi E, et al.. "Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing." Molecular Immunology, vol. 137, no. , 2021, pp. 57-66.
APA	Karimi E, Mahmoudian F, Reyes SOL, Bargir UA, Madkaikar M, Artac H, Sabzevari A, Lu N, Azizi G, Abolhassani H (2021). Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing. Molecular Immunology, 137(), 57-66.
Chicago	Karimi E, Mahmoudian F, Reyes SOL, Bargir UA, Madkaikar M, Artac H, Sabzevari A, Lu N, Azizi G, Abolhassani H. "Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing." Molecular Immunology 137, no. (2021): 57-66.
Harvard	Karimi E et al. (2021) 'Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing', Molecular Immunology, 137(), pp. 57-66.
Vancouver	Karimi E, Mahmoudian F, Reyes SOL, Bargir UA, Madkaikar M, Artac H, et al.. Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing. Molecular Immunology. 2021;137():57-66.
BibTex	@article{ author = {Karimi E and Mahmoudian F and Reyes SOL and Bargir UA and Madkaikar M and Artac H and Sabzevari A and Lu N and Azizi G and Abolhassani H}, title = {Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing}, journal = {Molecular Immunology}, volume = {137}, number = {}, pages = {57-66}, year = {2021} }
RIS	TY - JOUR AU - Karimi E AU - Mahmoudian F AU - Reyes SOL AU - Bargir UA AU - Madkaikar M AU - Artac H AU - Sabzevari A AU - Lu N AU - Azizi G AU - Abolhassani H TI - Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing JO - Molecular Immunology VL - 137 IS - SP - 57 EP - 66 PY - 2021 ER -

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