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PXD018042

PXD018042 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleNCKAP1L defects lead to primary immunodeficincy and lymphoproliferation within a Hemophagocytic Lymphohistiocytosis-like syndrome
DescriptionThe 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.
HostingRepositoryPRIDE
AnnounceDate2024-10-22
AnnouncementXMLSubmission_2024-10-22_05:09:39.172.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterAurélie Hirschler
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListmonohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
InstrumentQ Exactive
Dataset History
RevisionDatetimeStatusChangeLog Entry
02020-03-13 02:48:55ID requested
12020-07-23 05:08:42announced
22024-10-22 05:09:39announced2024-10-22: Updated project metadata.
Publication List
Dataset with its publication pending
Keyword List
submitter keyword: shotgun proteomics, RNAseq,NCKAP1L-deficiency, Hemophagocytic Lymphohistiocytosis-like syndrome, immunophenotying
Contact List
Carapito Christine
contact affiliationLaboratoire de Spectrometrie de Masse Bio-Organique (LSMBO), IPHC, UMR 7178, France
contact emailccarapito@unistra.fr
lab head
Aurélie Hirschler
contact affiliationLSMBO, IPHC
contact emailaurelie.hirschler@unistra.fr
dataset submitter
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Dataset FTP location
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PRIDE project URI
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