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UnknownGain-of-function Tibetan PHD2D4E;C127S variant suppresses monocyte function: A lesson in inflammatory response to inspired hypoxia.
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S-EPMC8190441 | biostudies-literature
ProteomicsA de novo mutation in /ITPR3/ causes combined immunodeficiency
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...
ORGANISM(S): Homo sapiens (Human) 
2024-06-18 | PXD038284 | Pride
Shotgun proteomics Rnaseq Itpr3 mutation 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) 
2020-07-31 | 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 
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