Information:
Fel:
ID
45596
Beskrivning
Principal Investigator: Michael Lenardo, National Institute of Allergy and Infectious Diseases, National Health Institure, Bethesda, MD, USA MeSH: Protein-Losing Enteropathies,Lymphangiectasis, Intestinal,Venous Thrombosis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001376 We describe 11 patients from 8 families with homozygous LOF mutations in the complement regulatory protein CD55. Loss of CD55 is associated with increased complement activation, severe protein losing enteropathy accompanying a primary intestinal lymphangiectasia, and deep vein thrombotic events. We have named this disease CHAPLE after the principle components of the disease.
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Nyckelord
Versioner (1)
- 2023-02-07 2023-02-07 - Simon Heim
Rättsinnehavare
Michael Lenardo, National Institute of Allergy and Infectious Diseases, National Health Institure, Bethesda, MD, USA
Uppladdad den
7 februari 2023
DOI
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Licens
Creative Commons BY 4.0
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dbGaP phs001376 Autosomal Recessive CD55 Deficiency
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
- Subject ID, father ID, mother ID, and sex of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
- Subject ID, sample ID, and sample use variable of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
- Subject ID, age, race, sex, and diagnostic criteria of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
- Sample ID, analyte type, body site, genotyping center, and tumor status of sample of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
- Subject ID, father ID, mother ID, and sex of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
- Subject ID, sample ID, and sample use variable of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
- Subject ID, age, race, sex, and diagnostic criteria of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
- Sample ID, analyte type, body site, genotyping center, and tumor status of sample of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,2])
Patient samples were chosen for inclusion in the project based on the following criteria:
Item
Patient samples were chosen for inclusion in the project based on the following criteria:
boolean
C0370003 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0243161 (UMLS CUI [1,3])
C1512693 (UMLS CUI [1,2])
C0243161 (UMLS CUI [1,3])
Families who had similar syndromic features were studied
Item
Families who had similar syndromic features were studied
boolean
C0015576 (UMLS CUI [1,1])
C5453017 (UMLS CUI [1,2])
C2603343 (UMLS CUI [1,3])
C5453017 (UMLS CUI [1,2])
C2603343 (UMLS CUI [1,3])
Patients, parents and other family members are available
Item
Patients, parents and other family members are available
boolean
C0470187 (UMLS CUI [1,1])
C0086282 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
DNA was available for use in whole genome or exome sequencing
Item
DNA was available for use in whole genome or exome sequencing
boolean
C0012854 (UMLS CUI [1,1])
C3640076 (UMLS CUI [1,2])
C3640077 (UMLS CUI [1,3])
C3640076 (UMLS CUI [1,2])
C3640077 (UMLS CUI [1,3])
Informed consent documentation
Item
Informed consent documentation
boolean
C0021430 (UMLS CUI [1,1])
C0920316 (UMLS CUI [1,2])
C0920316 (UMLS CUI [1,2])