A CASE OF CVID PATIENT: EXOME SEQUENCING REVEALED HETEROZYGOUS MISSENSE MUTATION E1021K IN THE PIK3CD GENE

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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 Federation

A. 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 Federation

S. B. Zimin

Moscow City Paediatric Hospital № 9 named by Speransky

Email: fake@neicon.ru

head of the Immunopathology department 

Moscow

Russian Federation

I. 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 Federation

M. 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 Federation

A. 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 Federation

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Copyright (c) 2018 Gordukova M.A., Kechin A.A., Zimin S.B., Serpokrylova I.Y., Filipenko M.L., Prodeus A.P.

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