ID
45675
Descrição
Principal Investigator: Helen Su, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA MeSH: Immunologic Deficiency Syndromes,RNA Virus Infections,Respiratory Tract Infections https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001235 We studied a child with life-threatening and recurrent respiratory tract infections, caused by multiple viruses including rhinovirus, influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5 by Whole Exome Sequencing. MDA5-deficiency is a novel inborn error of innate immunity that results in impaired dsRNA-sensing, reduced IFN induction, and susceptibility to the common cold virus.
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- 06/04/2023 06/04/2023 - Simon Heim
Titular dos direitos
Helen Su, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA
Transferido a
6 avril 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001235 Rhinovirus Susceptibility in Human MDA5 Deficiency
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, affection status, and consent group of participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
- Subject ID, family ID, father, mother, and sex of participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable obtained from participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
- Subject ID, sex, age, and diagnosis criteria [immunodeficiency, recurrent rhinovirus infections] of participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
- Sample ID, analyte type, body site where sample was obtained, genotyping center, and tumor status of samples obtained from participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, affection status, and consent group of participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
- Subject ID, family ID, father, mother, and sex of participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable obtained from participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
- Subject ID, sex, age, and diagnosis criteria [immunodeficiency, recurrent rhinovirus infections] of participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
- Sample ID, analyte type, body site where sample was obtained, genotyping center, and tumor status of samples obtained from participants with or without respiratory infections and involved in the "Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations" project.
C0680251 (UMLS CUI [1,2])
C0243161 (UMLS CUI [1,2])
C5447321 (UMLS CUI [1,2])
C0030705 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
C0012854 (UMLS CUI [1,2])
C5575842 (UMLS CUI [1,3])