Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding

Background Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by defective cellular cytotoxicity and hyperinflammation, and the only cure known to date is hematopoietic stem cell transplantation. Mutations in RAB27A , LYST , and AP3B1 give rise to FHL...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2015-05, Vol.135 (5), p.1310-1318.e1
Hauptverfasser:	Cetica, Valentina, PhD, Hackmann, Yvonne, PhD, Grieve, Samantha, Sieni, Elena, MD, Ciambotti, Benedetta, PhD, Coniglio, Maria Luisa, PhD, Pende, Daniela, PhD, Gilmour, Kimberly, MD, Romagnoli, Paolo, MD, Griffiths, Gillian M., PhD, Aricò, Maurizio, MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - metabolism Adolescent Albinism - genetics Allergy and Immunology Amino acids Case-Control Studies Cell Degranulation Cell Line Child Child, Preschool Cohort Studies cytotoxic T lymphocyte Cytotoxicity Cytotoxicity, Immunologic DNA Mutational Analysis familial hemophagocytic lymphohistiocytosis Female Gene Expression Genetic Markers Griscelli syndrome type 2 Hemophagocytic lymphohistiocytosis Humans Immune Deficiencies, Infection, and Systemic Immune Disorders Immune system Infant Lymphohistiocytosis, Hemophagocytic - diagnosis Lymphohistiocytosis, Hemophagocytic - genetics Lymphohistiocytosis, Hemophagocytic - metabolism Male melanophilin Membrane Proteins - chemistry Membrane Proteins - metabolism Models, Molecular Mutation natural killer cells Patients Perforin - genetics Phenotype Protein Binding Protein Conformation Proteins rab GTP-Binding Proteins - chemistry rab GTP-Binding Proteins - genetics rab GTP-Binding Proteins - metabolism rab27 GTP-Binding Proteins Skin Pigmentation - genetics Stem cells
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