ID
45686
Description
Principal Investigator: Helen Su, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA MeSH: Immunologic Deficiency Syndromes,Epstein-Barr Virus Infections https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001245 We describe four patients from two unrelated families of different ethnicities who had primary immunodeficiency predominantly manifesting as susceptibility to EBV-related diseases. We performed whole exome sequencing (P1 and P2 from family 1) or whole genome sequencing (P4 and both parents from family 2) in those two families and identified homozygous frameshift or in-frame deletions in CD70 in these patients which abolished either CD70 surface expression or binding to its counter structure CD27. Sanger sequencing identified the same homozygous *CD70* mutation in P3, which is not included in the dbGaP submission. Autosomal recessive CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of CD27 deficiency.
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Versions (1)
- 02/05/2023 02/05/2023 - Simon Heim
Détendeur de droits
Helen Su, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
Téléchargé le
2 mai 2023
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs001245 Autosomal Recessive CD70 Deficiency
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, and affection status for EBV associated diseases and CD70 deficiency.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table includes subjects' age, sex, race, and diagnosis criteria (n=4 variables; immunodeficiency, EBV-associated diseases, hypogammaglobulinema, and Hodgkin lymphoma).
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, and genotyping center.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, and affection status for EBV associated diseases and CD70 deficiency.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and sex of subjects.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table includes subjects' age, sex, race, and diagnosis criteria (n=4 variables; immunodeficiency, EBV-associated diseases, hypogammaglobulinema, and Hodgkin lymphoma).
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, and genotyping center.
C0680251 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,2])
C5453017 (UMLS CUI [1,2])
C2348519 (UMLS CUI [1,3])
C0030705 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
C0012854 (UMLS CUI [1,2])
C3640076 (UMLS CUI [1,3])
C5575842 (UMLS CUI [1,4])
C0920316 (UMLS CUI [1,2])