Nathalia Benavides Waldo A Spessott Maria L Sanmillan Marcelo Vargas Mylynda S Livingston Nissa Erickson Tamara C Pozos Margaret E McCormick Emilia Scharrig Yoav H Messinger Claudio G Giraudo
10.3389/fimmu.2020.545414
Front Immunol
2020 Oct 8;11:545414.
g6pd deficiency snares stxbp2 cytotoxic t-lymphocytes (ctls) familial hemophagocytic lymphohistiocytosis−5 (f-hlh) lytic granule exocytosis natural killer cells
CC BY
https://pubmed.ncbi.nlm.nih.gov/33162974/
Exocytosis / genetics Glucosephosphate Dehydrogenase Deficiency / diagnosis Glucosephosphate Dehydrogenase Deficiency / genetics Lymphohistiocytosis, Hemophagocytic / diagnosis Lymphohistiocytosis, Hemophagocytic / genetics Munc18 Proteins / genetics Mutation
Exocytosis / genetics Glucosephosphate Dehydrogenase Deficiency / diagnosis Glucosephosphate Dehydrogenase Deficiency / genetics Lymphohistiocytosis, Hemophagocytic / diagnosis Lymphohistiocytosis, Hemophagocytic / genetics Munc18 Proteins / genetics Mutation Case Reports Research Support, N.I.H., Extramural Alleles Amino Acid Sequence Amino Acid Substitution Apoptosis / genetics Apoptosis / immunology Biomarkers Cytotoxicity, Immunologic Disease Susceptibility Gene Expression Genetic Association Studies Glucosephosphate Dehydrogenase Deficiency / complications Humans Infant, Newborn Killer Cells, Natural / immunology Killer Cells, Natural / metabolism Lymphohistiocytosis, Hemophagocytic / complications Male Membrane Proteins / genetics Membrane Proteins / metabolism Models, Molecular Munc18 Proteins / chemistry Munc18 Proteins / metabolism Protein Conformation Qa-SNARE Proteins / genetics Qa-SNARE Proteins / metabolism Structure-Activity Relationship T-Lymphocytes, Cytotoxic / immunology T-Lymphocytes, Cytotoxic / metabolism Biomarkers Membrane Proteins Munc18 Proteins Qa-SNARE Proteins STX11 protein, human STXBP2 protein, human UNC13D protein, human
PMC7580532
33162974
STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis
2020