A CASE OF CVID PATIENT: EXOME SEQUENCING REVEALED HETEROZYGOUS MISSENSE MUTATION E1021K IN THE PIK3CD GENE
- Authors: Gordukova M.A.1, Kechin A.A.2,3, Zimin S.B.1, Serpokrylova I.Y.3,4, Filipenko M.L.2,3, Prodeus A.P.1,5
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Affiliations:
- Moscow City Paediatric Hospital № 9 named by Speransky
- Novosibirsk State Universiry
- Institute of Chemical Biology and Fundamental Medicine SB RAS
- BIOSSET Ltd., Novosibirsk
- University Clinic of Children’s Diseases of Pirogov Russian National Research Medical University (RNRMU)
- Issue: Vol 21, No 1 (2018)
- Pages: 54-64
- Section: ORIGINAL ARTICLES
- URL: https://ogarev-online.ru/1028-7221/article/view/119367
- DOI: https://doi.org/10.7868/S1028722118010070
- ID: 119367
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Abstract
To establish a definitive molecular diagnosis for the case of a 17-Year-Old Boy (NS) with a history of CVID, recurrent pulmonary infections, chronic EBV viremia, lymphadenopathy and a decrease of IgG3 and luck of IgG4 who presented for follow-up in the immunodeficiency clinic whole exome capture and next-generation sequencing were performed. We showed a presence of heterozygous missense mutation E1021K in the PIK3CD gene that encodes p110d (c.3061G > A [p.E1021K]). The mutation was verified by Sanger sequencing and not found in parents genomic DNA, thus classifying this E1021K mutation as de novo. Several additional mutations relevant to immune system pathways were found and confirmed by Sanger sequencing including TLR3 p.L412F, TNFRSF1A p.R121Q (rs4149584), associated with periodic disease.
About the authors
M. A. Gordukova
Moscow City Paediatric Hospital № 9 named by Speransky
Author for correspondence.
Email: ma.gordukova@dgkb-9.ru
biologist of clinical diagnostic laboratory
123317, Moscow, 29 Shmitovsky
Russian FederationA. A. Kechin
Novosibirsk State Universiry; Institute of Chemical Biology and Fundamental Medicine SB RAS
Email: fake@neicon.ru
laboratory technician in Laboratory of Pharmacogenomics Institute of Chemical Biology and Fundamental Medicine SB RAS
Novosibirsk
Russian FederationS. B. Zimin
Moscow City Paediatric Hospital № 9 named by Speransky
Email: fake@neicon.ru
head of the Immunopathology department
Moscow
Russian FederationI. Yu. Serpokrylova
Institute of Chemical Biology and Fundamental Medicine SB RAS; BIOSSET Ltd., Novosibirsk
Email: fake@neicon.ru
laboratory technician in Laboratory of Pharmacogenomics Institute of Chemical Biology and Fundamental Medicine SB RAS
Novosibirsk
Russian FederationM. L. Filipenko
Novosibirsk State Universiry; Institute of Chemical Biology and Fundamental Medicine SB RAS
Email: fake@neicon.ru
PhD, head of the Laboratory of Pharmacogenomics Institute of Chemical Biology and Fundamental Medicine SB RAS
Novosibirsk
Russian FederationA. P. Prodeus
Moscow City Paediatric Hospital № 9 named by Speransky; University Clinic of Children’s Diseases of Pirogov Russian National Research Medical University (RNRMU)
Email: fake@neicon.ru
MD, PhD, professor, pediatrician-immunologist, chief specialist in pediatrics, director of the University Clinic of Children’s Diseases
Moscow
Russian FederationReferences
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