{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T19:10:06Z","timestamp":1790536206094,"version":"4.1.0"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2014,11,7]],"date-time":"2014-11-07T00:00:00Z","timestamp":1415318400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U54HG006542"],"award-info":[{"award-number":["U54HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U54HG003273"],"award-info":[{"award-number":["U54HG003273"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health, USA","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,11,7]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>In areas without newborn screening for severe combined immunodeficiency (SCID), disease-defining infections may lead to diagnosis, and in some cases, may not be identified prior to the first year of life. We describe a female infant who presented with disseminated vaccine-acquired varicella (VZV) and vaccine-acquired rubella infections at 13 months of age. Immunological evaluations demonstrated neutropenia, isolated CD4 lymphocytopenia, the presence of CD8+T cells, poor lymphocyte proliferation, hypergammaglobulinaemia and poor specific antibody production to VZV infection and routine immunizations. A combination of whole exome sequencing and custom-designed chromosomal microarray with exon coverage of primary immunodeficiency genes detected compound heterozygous mutations (one single nucleotide variant and one intragenic copy number variant involving one exon) within the IL7R gene. Mosaicism for wild-type allele (20\u201330%) was detected in pretransplant blood and buccal DNA and maternal engraftment (5\u201310%) demonstrated in pretransplant blood DNA. This may be responsible for the patient's unusual immunological phenotype compared to classical interleukin (IL)-7R\u03b1 deficiency. Disseminated VZV was controlled with anti-viral and immune-based therapy, and umbilical cord blood stem cell transplantation was successful. Retrospectively performed T cell receptor excision circle (TREC) analyses completed on neonatal Guthrie cards identified absent TREC. This case emphasizes the danger of live viral vaccination in severe combined immunodeficiency (SCID) patients and the importance of newborn screening to identify patients prior to high-risk exposures. It also illustrates the value of aggressive pathogen identification and treatment, the influence newborn screening can have on morbidity and mortality and the significant impact of newer genomic diagnostic tools in identifying the underlying genetic aetiology for SCID patients.<\/jats:p>","DOI":"10.1111\/cei.12421","type":"journal-article","created":{"date-parts":[[2014,7,21]],"date-time":"2014-07-21T08:39:38Z","timestamp":1405931978000},"page":"459-469","source":"Crossref","is-referenced-by-count":55,"title":["Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in <i>IL 7 R<\/i> detected by tandem whole exome sequencing and chromosomal microarray"],"prefix":"10.1093","volume":"178","author":[{"given":"D K","family":"Bayer","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine and Texas Children's Hospital, 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M","family":"Noroski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S R","family":"Zaki","sequence":"additional","affiliation":[{"name":"Infectious Diseases Pathology Branch, Division of High-Consequence Pathogens and Pathology, National Center for Emerging and Zoonotic Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W J","family":"Bellini","sequence":"additional","affiliation":[{"name":"Measles, Mumps, Rubella, and Herpes Virus Laboratory Branch, Division of Viral Diseases, National Center for Immunization and Respiratory Disease, Atlanta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M S","family":"Leduc","sequence":"additional","affiliation":[{"name":"Whole Genome Laboratory, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Yang","sequence":"additional","affiliation":[{"name":"Measles, Mumps, Rubella, and Herpes Virus Laboratory Branch, Division of Viral Diseases, National Center for Immunization and Respiratory Disease, Atlanta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C M","family":"Eng","sequence":"additional","affiliation":[{"name":"Whole Genome Laboratory, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"},{"name":"Medical Genetics Laboratories, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Patel","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratories, Molecular and Human 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