PXD038284

PXD038284 is an original dataset announced via ProteomeXchange.

Title	A de novo mutation in /ITPR3/ causes combined immunodeficiency
Description	This study reports two unrelated patients with a combined immunodeficiency. Whole-exome sequencing of both patients, their healthy parents and siblings identified in both families a /de novo/ missense variant in /ITPR3/ (NM_002224.3:c.7570C>T, p.Arg2524Cys). While the mRNA level in patients remained the same as in healthy siblings and controls, the level of protein expression was diminished. It was also shown that the ITPR3 heterozygous p.Arg2524Cys mutation impairs calcium flux function in dermal fibroblast of one patient and in a knock-in Jurkat T cell line.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_06:46:09.054.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Aurélie Hirschler
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2022-11-22 04:07:52	ID requested
1	2024-06-18 06:12:49	announced
⏵ 2	2024-10-22 06:46:09	announced	2024-10-22: Updated project metadata.

Dataset with its publication pending

submitter keyword: shotgun proteomics, RNAseq,ITPR3 mutation, immunophenotying

Christine Carapito
contact affiliation	bLaboratoire de Spectrométrie de Masse Bio-organique, Institut Pluridisciplinaire Hubert Curien, UMR7178 CNRS, Université de Strasbourg, Strasbourg, France
contact email	ccarapito@unistra.fr
lab head
Aurélie Hirschler
contact affiliation	LSMBO, IPHC
contact email	aurelie.hirschler@unistra.fr
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2024/06/PXD038284

PRIDE project URI

• PRIDE
  1. PXD038284
     1. Label: PRIDE project
     2. Name: A de novo mutation in /ITPR3/ causes combined immunodeficiency