ID
45940
Descripción
Principal Investigator: Helen Su, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA MeSH: Immunologic Deficiency Syndromes,Autoimmunity,Developmental Disabilities https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000848 To define a genetic syndrome of combined immunodeficiency, severe autoimmunity, and developmental delay, 4 patients from two families who had similar syndromic features were studied. To identify disease-causing mutations, we performed whole exome sequencing for one patient and her healthy parent from Family 1 and also for one patient from Family 2. Disease segregated with novel autosomal recessive mutations in a single gene, tripeptidyl-peptidase II (*TPP2*) gene. The result defines a new human metabolic immunodeficiency.
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Versiones (1)
- 2024-03-09 2024-03-09 - Madita Rudolph
Titular de derechos de autor
Helen Su, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
Subido en
9 mars 2024
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000848 Autosomal recessive TPP2 mutations cause a new human immunodeficiency
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information
- Pedigree Information
- Subject - Sample Mapping
- The phenotype data provide information about diagnosis status for: immune deficiency, autoimmunity, developmental delay, and provide age/gender information. The summary graphs are not displayed on the public pages since data of less than n=5 subjects are available.
- Sample - Attribute Information
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information
- Pedigree Information
- Subject - Sample Mapping
- The phenotype data provide information about diagnosis status for: immune deficiency, autoimmunity, developmental delay, and provide age/gender information. The summary graphs are not displayed on the public pages since data of less than n=5 subjects are available.
- Sample - Attribute Information
C0680251 (UMLS CUI [1,2])
C0039082 (UMLS CUI [1,2])
C2348205 (UMLS CUI [1,3])
C2603343 (UMLS CUI [1,4])
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])