PXD013289

PXD013289 is an original dataset announced via ProteomeXchange.

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

Revision	Datetime	Status	ChangeLog Entry
0	2019-03-28 08:12:20	ID requested
⏵ 1	2022-05-31 01:49:42	announced

Dataset with its publication pending

submitter keyword: Autoimmune lymphoproliferative syndrome (ALPS), apoptosis, mutation, FAS, FASL, Caspase10, label-free quantitation.

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

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PRIDE project URI

• PRIDE
  1. PXD013289
     1. Label: PRIDE project
     2. Name: Label free mass spectrometry quantification of differentially expressed proteins in an atypical presentation of Autoimmune Lymphoproliferative Syndrome.