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Label free mass spectrometry quantification of differentially expressed proteins in an atypical presentation of Autoimmune Lymphoproliferative Syndrome.

ABSTRACT: 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.

INSTRUMENT(S): Synapt MS

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Blood Cell, Peripheral Blood Mononuclear Cell

DISEASE(S): Autoimmune Lymphoproliferative Syndrome

SUBMITTER: Emmanuel Rios-Castro

LAB HEAD: José Tapia Ramírez

PROVIDER: PXD013289 | Pride | 2022-05-31

REPOSITORIES: Pride

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			Action	DRS
	20180824_HDMSE_CONTROL_ALPS.raw.zip	Raw
	20180824_HDMSE_DISEASE_ALPS.raw.zip	Raw
	20180824_MSE_CONTROL_ALPS.raw.zip	Raw
	20180824_MSE_DISEASE_ALPS.raw.zip	Raw
	20180824_UDMSE_CONTROL_ALPS_001.raw.zip	Raw

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