{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T20:54:23Z","timestamp":1777928063751,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["OMICS: A Journal of Integrative Biology"],"published-print":{"date-parts":[[2019,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Primary immunodeficiencies (PIDs) are a rare and heterogeneous group of inherited genetic disorders that are characterized by an absent or impaired immune system. In this report, we describe the use of next-generation sequencing to investigate a male infant with clinical and immunological manifestations suggestive of a PID. Whole-exome sequencing of the infant along with his parents revealed a novel nucleotide variant (cytosine to adenine substitution at nucleotide position 252) in the coding region of the interleukin 2 receptor subunit gamma (\n                    <jats:italic toggle=\"yes\">IL2RG<\/jats:italic>\n                    ) gene. The mother was found to be a carrier. These findings are consistent with a diagnosis of X-linked severe combined immunodeficiency and represent the first such reported mutation in an Indian family. This mutation leads to an asparagine to lysine substitution (\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/p.Asn84Lys\">p.Asn84Lys<\/jats:ext-link>\n                    ) located in the extracellular domain of IL2RG, which is predicted to be pathogenic. Our study demonstrates the power of next-generation sequencing in identifying potential causative mutations to enable accurate clinical diagnosis, prenatal screening, and carrier female detection in PID patients. We believe that this approach, which is not a current routine in clinical practice, will become a mainstream component of individualized medicine in the near future.\n                  <\/jats:p>","DOI":"10.1089\/omi.2018.0196","type":"journal-article","created":{"date-parts":[[2019,5,17]],"date-time":"2019-05-17T14:09:31Z","timestamp":1558102171000},"page":"285-290","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Family-Based Next-Generation Sequencing Study Identifies an\n                    <i>IL2RG<\/i>\n                    Variant in an Infant with Primary Immunodeficiency"],"prefix":"10.1177","volume":"23","author":[{"given":"Aravind K.","family":"Bandari","sequence":"first","affiliation":[{"name":"Institute of Bioinformatics, Bangalore, India."},{"name":"Manipal Academy of Higher Education, Manipal, Karnataka, India."},{"name":"Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunil","family":"Bhat","sequence":"additional","affiliation":[{"name":"Pediatric Hematology, Oncology and Bone Marrow Transplant, Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MV","family":"Archana","sequence":"additional","affiliation":[{"name":"Pediatric Hematology, Oncology and Bone Marrow Transplant, Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunita","family":"Yadavalli","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics, Bangalore, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krishna","family":"Patel","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics, Bangalore, India."},{"name":"Amrita School of Biotechnology, Amrita Vishwa Vidyapeetham, Kollam, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavithra","family":"Rajagopalan","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics, Bangalore, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anil K.","family":"Madugundu","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics, Bangalore, India."},{"name":"Manipal Academy of Higher Education, Manipal, Karnataka, India."},{"name":"Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India."},{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota."},{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manisha","family":"Madkaikar","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology, KEM Hospital Campus, Mumbai, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kavita","family":"Reddy","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics, Bangalore, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Babylakshmi","family":"Muthusamy","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics, Bangalore, India."},{"name":"Manipal Academy of Higher Education, Manipal, Karnataka, India."},{"name":"Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akhilesh","family":"Pandey","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India."},{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota."},{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,5,17]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.167.1.1"},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.4238\/2015.June.9.2"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0198-5"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-017-0465-8"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2004.10.012"},{"key":"e_1_3_3_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.12849"},{"key":"e_1_3_3_9_1","first-page":"190","article-title":"Diagnostic criteria for primary immunodeficiencies","volume":"93","author":"Conley ME","year":"1999","unstructured":"Conley ME, , Notarangelo LD, , and Etzioni A. (1999). Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol, 93, 190\u2013197.","journal-title":"Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2017.175"},{"key":"e_1_3_3_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.61"},{"key":"e_1_3_3_12_1","first-page":"730","article-title":"Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency","volume":"103","author":"Fugmann SD","year":"1998","unstructured":"Fugmann SD, , Muller S, , Friedrich W, , Bartram CR, , and Schwarz K. (1998). Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency. Hum Genet, 103, 730\u2013731.","journal-title":"Hum Genet"},{"key":"e_1_3_3_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000105752.80592.A3"},{"key":"e_1_3_3_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-017-0373-y"},{"key":"e_1_3_3_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.9132"},{"key":"e_1_3_3_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-010-9489-z"},{"key":"e_1_3_3_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_3_3_18_1","first-page":"1","article-title":"Applying public health strategies to primary immunodeficiency diseases: A potential approach to genetic disorders","volume":"53","author":"Lindegren ML","year":"2004","unstructured":"Lindegren ML, , Kobrynski L, , Rasmussen SA, et al. (2004). Applying public health strategies to primary immunodeficiency diseases: A potential approach to genetic disorders. 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