ID
45608
Descrição
Principal Investigator: Joshua D. Milner, MD, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA MeSH: Dermatitis, Atopic,Asthma,Food Hypersensitivity,Skin Diseases, Infectious https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001369 We described five patients from four unrelated families who had severe atopic dermatitis and susceptibility to mild skin viral infections. Some patients also exhibited other allergic symptoms such as asthma and food allergy. We performed targeted sequencing for affected patients A-I of family A and B-I of family B, whole exome sequencing for D-I, D-II.1 and healthy mother D-II.3 of family D, and whole genome sequencing for C-I and healthy mother C-II.2 of family C. We identified three different novel damaging missense mutations of CARD11 (GeneID:84433) in patients A-I (L194P), B-I (R975W), and C-I (E57D). In patients D-I and D-II.1, a dup183_196 (p.K196_V197insMKEERDSYNDELVK) mutation was found in the coil-coil domain of the protein. These mutations act as dominant negatives impeding the scaffolding function of the wild type protein, which leads to downstream NF-kB and mTORC1 signaling defects after TCR stimulation. Sanger sequencing later identified the corresponding CARD11 mutations in the affected family members (C-II.1, D-II.2) that are not included in the dbGaP submission. Hypomorphic CARD11 dominant negative mutants are novel causes of severe atopic disease.
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- 21/02/2023 21/02/2023 - Simon Heim
Titular dos direitos
Joshua D. Milner, MD, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
Transferido a
21 de fevereiro de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001369 Germline hypomorphic CARD11 mutations in severe atopic disease
The subject consent file includes subject IDs, consent information, and affection status of the subject for severe atopic dermatitis.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, and affection status of the subject for severe atopic dermatitis.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, and sex.
- This subject sample mapping data table contains 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.
- This subject phenotype table contains subject ID, sex, and diagnosis criteria for severe atopic dermatitis, molluscum, eczema herpeticum, asthma, pneumonia, and food allergy.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and name of the center which conducted genotyping.
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The subject consent file includes subject IDs, consent information, and affection status of the subject for severe atopic dermatitis.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, and affection status of the subject for severe atopic dermatitis.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, and sex.
- This subject sample mapping data table contains 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.
- This subject phenotype table contains subject ID, sex, and diagnosis criteria for severe atopic dermatitis, molluscum, eczema herpeticum, asthma, pneumonia, and food allergy.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, and name of the center which conducted genotyping.
C0441833 (UMLS CUI [1,2])
C0242481 (UMLS CUI [1,2])