<i>STXBP2-R190C</i> Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and <i>G6PD</i> Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.

Benavides, Nathalia; Spessott, Waldo A; Sanmillan, Maria L; Vargas, Marcelo; Livingston, Mylynda S; Erickson, Nissa; Pozos, Tamara C; McCormick, Margaret E; Scharrig, Emilia; Messinger, Yoav H; Giraudo, Claudio G

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.

Benavides, Nathalia; Spessott, Waldo A; Sanmillan, Maria L; Vargas, Marcelo; Livingston, Mylynda S; Erickson, Nissa; Pozos, Tamara C; McCormick, Margaret E; Scharrig, Emilia; Messinger, Yoav H; Giraudo, Claudio G.

Benavides N; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States.
Spessott WA; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States.
Sanmillan ML; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States.
Vargas M; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, United States.
Livingston MS; Department of Pediatric Hematology-Oncology, Children's Minnesota, Minneapolis, MN, United States.
Erickson N; Minnesota Gastroenterology, P.A., Minneapolis, MN, United States.
Pozos TC; Department of Immunology, Children's Minnesota, Minneapolis, MN, United States.
McCormick ME; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States.
Scharrig E; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States.
Messinger YH; Department of Pediatric Hematology-Oncology, Children's Minnesota, Minneapolis, MN, United States.
Giraudo CG; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States.

Front Immunol ; 11: 545414, 2020.

Article en En | MEDLINE | ID: mdl-33162974

Asunto(s)

Exocitosis/genética; Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico; Deficiencia de Glucosafosfato Deshidrogenasa/genética; Linfohistiocitosis Hemofagocítica/diagnóstico; Linfohistiocitosis Hemofagocítica/genética; Proteínas Munc18/genética; Mutación; Alelos; Secuencia de Aminoácidos; Sustitución de Aminoácidos; Apoptosis/genética; Apoptosis/inmunología; Biomarcadores; Citotoxicidad Inmunológica; Susceptibilidad a Enfermedades; Expresión Génica; Estudios de Asociación Genética; Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones; Humanos; Recién Nacido; Células Asesinas Naturales/inmunología; Células Asesinas Naturales/metabolismo; Linfohistiocitosis Hemofagocítica/complicaciones; Masculino; Proteínas de la Membrana/genética; Proteínas de la Membrana/metabolismo; Modelos Moleculares; Proteínas Munc18/química; Proteínas Munc18/metabolismo; Conformación Proteica; Proteínas Qa-SNARE/genética; Proteínas Qa-SNARE/metabolismo; Relación Estructura-Actividad; Linfocitos T Citotóxicos/inmunología; Linfocitos T Citotóxicos/metabolismo

Palabras clave

G6PD deficiency; SNAREs; STXBP2; cytotoxic T-lymphocytes (CTLs); familial hemophagocytic lymphohistiocytosis−5 (f-HLH); lytic granule exocytosis; natural killer cells

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Linfohistiocitosis Hemofagocítica / Proteínas Munc18 / Exocitosis / Deficiencia de Glucosafosfato Deshidrogenasa / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Año: 2020 Tipo del documento: Article

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