PXD013289 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Label free mass spectrometry quantification of differentially expressed proteins in an atypical presentation of Autoimmune Lymphoproliferative Syndrome. |
Description | Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized among others things by chronic massive, nonmalignant lymphoadenopathy and splenomegaly. ALPS has been defined as a defect in the lymphocyte apoptotic pathway and is associate with inherited mutations in the FAS, Fas ligand and caspase 10 genes. However, 20-30% of the patients clinically diagnosed do not present any known mutations. We report here the case of a 10 years old girl with a probable diagnostic of ALPS. The patient meet the criteria of the disease nevertheless, the sequencing analysis of the genes involved did not present mutations. In order to go further in the knowledge of the ailment of this patient, we performed the study of the proteome of her peripheral blood mononuclear cells (PBMC) population. We compare the expression of proteins in the sample of the patient with a sample of a same years old healthy girl. The information achieved will provide us valuable elements to make a more integral diagnostic of ALPS and also, others autoimmune diseases. |
HostingRepository | PRIDE |
AnnounceDate | 2022-05-31 |
AnnouncementXML | Submission_2022-05-31_01:49:41.976.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Emmanuel Rios-Castro |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | amidated residue; phosphorylated residue; monohydroxylated residue; iodoacetamide derivatized residue; deamidated residue |
Instrument | Synapt MS |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2019-03-28 08:12:20 | ID requested | |
⏵ 1 | 2022-05-31 01:49:42 | announced | |
Publication List
Dataset with its publication pending |
Keyword List
submitter keyword: Autoimmune lymphoproliferative syndrome (ALPS), apoptosis, mutation, FAS, FASL, Caspase10, label-free quantitation. |
Contact List
José Tapia Ramírez |
contact affiliation | Department of Genetics and Molecular Biology, Cinvestav-IPN. |
contact email | jtapia@cinvestav.mx |
lab head | |
Emmanuel Rios-Castro |
contact affiliation | Cinvestav-IPN |
contact email | eriosc@cinvestav.mx |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD013289
- Label: PRIDE project
- Name: Label free mass spectrometry quantification of differentially expressed proteins in an atypical presentation of Autoimmune Lymphoproliferative Syndrome.