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PXD016191 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.
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterAurélie Hirschler
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListacetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
InstrumentQ Exactive
Dataset History
RevisionDatetimeStatusChangeLog Entry
02019-11-07 08:31:27ID requested
12020-07-31 05:31:11announced
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 affiliationLaboratoire de Spectrométrie de Masse Bio-Organique (LSMBO), IPHC, UMR 7178, Université de Strasbourg, CNRS, Strasbourg, France
contact emailccarapito@unistra.fr
lab head
Aurélie Hirschler
contact affiliationLSMBO, IPHC
contact emailaurelie.hirschler@unistra.fr
dataset submitter
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