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ProteomicsNCKAP1L defects lead to primary immunodeficincy and lymphoproliferation within a Hemophagocytic Lymphohistiocytosis-like syndrome
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...
ORGANISM(S): Homo sapiens (Human) 
2020-07-31 | PXD016191 | Pride
Shotgun proteomics Rnaseq Nckap1l-deficiency Hemophagocytic lymphohistiocytosis-like syndrome Immunophenotying 
ProteomicsNCKAP1L defects lead to primary immunodeficincy and lymphoproliferation within a Hemophagocytic Lymphohistiocytosis-like syndrome
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...
ORGANISM(S): Homo sapiens (Human) 
2020-07-23 | PXD018042 | Pride
Shotgun proteomics Rnaseq Nckap1l-deficiency Hemophagocytic lymphohistiocytosis-like syndrome Immunophenotying 
TranscriptomicsRNAseq on PBMC of two patients with a novel syndromic entity combining immunodeficiency, lymphoproliferation and HLH-like phenotypes, and three age and sex-matched controls for each patient.
The study describes two independent cases of NCKAP1L-deficiency, both carrying homozygous non-sense or splice variants in the NCKAP1L gene. The patients presented a phenotype of immunodeficiency, lymphoproliferation and hyperinflammation with features of Hemophagocytic Lymphohistiocytosis (HLH).
ORGANISM(S): Homo sapiens 
2020-03-03 | E-MTAB-8524 | biostudies-arrayexpress
UnknownNCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.
Not available
S-EPMC7526481 | biostudies-literature
GenomicsRNAseq on PBMC of two patients with a novel syndromic entity combining immunodeficiency, lymphoproliferation and HLH-like phenotypes, and three age and sex-matched controls for each patient.
RNAseq on PBMC of two patients with a novel syndromic entity combining immunodeficiency, lymphoproliferation and HLH-like phenotypes, and three age and sex-matched controls for each patient.
PRJEB35456 | ENA
UnknownHem-1 regulates protective humoral immunity and limits autoantibody production in a B cell-specific manner.
Not available
S-EPMC9090261 | biostudies-literature
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