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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 6/2020

01-08-2020 | Lymphoma | Original Article

Lymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defect

Authors: Khusan Khodzhaev, Sema Buyukkapu Bay, Rejin Kebudi, Didem Altindirek, Aysenur Kaya, Yucel Erbilgin, Ozden Hatirnaz Ng, Ayca Kiykim, Funda Cipe Erol, Feride Sen Zengin, Sinem Firtina, Yuk Yin Ng, Basak Adakli Aksoy, Muge Sayitoglu

Published in: Journal of Clinical Immunology | Issue 6/2020

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Abstract

Genome-wide sequencing studies in pediatric cancer cohorts indicate that about 10% of patients have germline mutations within cancer predisposition genes. Within this group, primary immune deficiencies take the priority regarding the vulnerability of the patients to infectious agents and the difficulties of cancer management. On the other hand, early recognition of these diseases may offer specific targeted therapies and hematopoietic stem cell transplantation as an option. Besides therapeutic benefits, early diagnosis will provide genetic counseling for the family members. Within this context, an extended family with multiple consanguineous marriages and affected individuals, who presented with combined immune deficiency (CID) and/or Hodgkin lymphoma phenotype, were examined by exome sequencing. A pathogenic homozygous missense CD70 variation was detected (NM_001252.5:c332C>T) in concordance with CD70 phenotype and familial segregation was confirmed. CD70 variations in patients with CID and malignancy have very rarely been reported. This paper reports extended family with multiple affected members with CID and malignancy carrying a missense CD70 variation, and reviews the rare cases reported in the literature. Primary immune deficiencies appear to be a potential cause for pediatric cancers. Better focusing on these inborn disorders to prevent or make an early diagnosis of malignant transformation and reduce mortalities is important.
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Metadata
Title
Lymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defect
Authors
Khusan Khodzhaev
Sema Buyukkapu Bay
Rejin Kebudi
Didem Altindirek
Aysenur Kaya
Yucel Erbilgin
Ozden Hatirnaz Ng
Ayca Kiykim
Funda Cipe Erol
Feride Sen Zengin
Sinem Firtina
Yuk Yin Ng
Basak Adakli Aksoy
Muge Sayitoglu
Publication date
01-08-2020
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 6/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00816-4

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