PXD016191 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | NCKAP1L defects lead to primary immunodeficincy and lymphoproliferation within a Hemophagocytic Lymphohistiocytosis-like syndrome |
Description | The Nck-Associated Protein 1-Like NCKAP1L gene, alternatively called Hematopoietic protein 1 (HEM-1), encodes a hematopoietic-specific regulator of the actin cytoskeleton, part of the WAVE2 complex. NCKAP1L is involved in lymphocyte development, phagocytosis and neutrophils migration. Here we report the first cases of NCKAP1L-deficiency in man, as homozygous non-sense or splice variants, observed in 2 independent patients of Middle-Eastern origin of 1.5 months and 9 years of age respectively. We described a novel nosological entity, combining to various degrees, immune deficiency, lymphoproliferation within a highly inflammatory syndrome, reminiscent, yet distinct of HLH; due to recessive mutations in NCKAP1L. |
HostingRepository | PRIDE |
AnnounceDate | 2020-07-31 |
AnnouncementXML | Submission_2020-07-31_05:31:11.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 |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2019-11-07 08:31:27 | ID requested | |
⏵ 1 | 2020-07-31 05:31:11 | announced | |
2 | 2021-02-26 02:11:56 | announced | 2021-02-26: Updated publication reference for PubMed record(s): 32766723. |
Publication List
Dataset with its publication pending |
Keyword List
submitter keyword: NCKAP1L-deficiency, Hemophagocytic Lymphohistiocytosis-like syndrome, immunophenotying, RNAseq, shotgun proteomics |
Contact List
Christine Carapito |
contact affiliation | Laboratoire de Spectrométrie de Masse Bio-Organique (LSMBO), IPHC, UMR 7178, Université de Strasbourg, CNRS, Strasbourg, France |
contact email | ccarapito@unistra.fr |
lab head | |
Aurélie Hirschler |
contact affiliation | LSMBO, IPHC |
contact email | aurelie.hirschler@unistra.fr |
dataset submitter | |
Full Dataset Link List
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/2020/07/PXD016191 |
PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD016191
- Label: PRIDE project
- Name: NCKAP1L defects lead to primary immunodeficincy and lymphoproliferation within a Hemophagocytic Lymphohistiocytosis-like syndrome