Novel Heterozygous Mutation in <i>NFKB2</i> Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.

Aird, Alejandra; Lagos, Macarena; Vargas-Hernández, Alexander; Posey, Jennifer E; Coban-Akdemir, Zeynep; Jhangiani, Shalini; Mace, Emily M; Reyes, Anaid; King, Alejandra; Cavagnaro, Felipe; Forbes, Lisa R; Chinn, Ivan K; Lupski, James R; Orange, Jordan S; Poli, Maria Cecilia

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.

Aird, Alejandra; Lagos, Macarena; Vargas-Hernández, Alexander; Posey, Jennifer E; Coban-Akdemir, Zeynep; Jhangiani, Shalini; Mace, Emily M; Reyes, Anaid; King, Alejandra; Cavagnaro, Felipe; Forbes, Lisa R; Chinn, Ivan K; Lupski, James R; Orange, Jordan S; Poli, Maria Cecilia.

Afiliación

Aird A; Clínica Alemana de Santiago, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.
Lagos M; Clínica Las Condes, Santiago, Chile.
Vargas-Hernández A; Hospital Padre Hurtado, Santiago, Chile.
Posey JE; Section of Immunology, Allergy and Rheumatology, Department of Pediatrics, Center for Human Immunobiology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, United States.
Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Jhangiani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Mace EM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Reyes A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, United States.
King A; Division of Immunogenetics, Department of Pediatrics, Morgan Stanley Children's Hospital of New York Presbyterian, Columbia University Irving Medical Center, New York, NY, United States.
Cavagnaro F; Section of Immunology, Allergy and Rheumatology, Department of Pediatrics, Center for Human Immunobiology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, United States.
Forbes LR; Clínica Alemana de Santiago, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.
Chinn IK; Clínica Alemana de Santiago, Facultad de Medicina Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.
Lupski JR; Section of Immunology, Allergy and Rheumatology, Department of Pediatrics, Center for Human Immunobiology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, United States.
Orange JS; Section of Immunology, Allergy and Rheumatology, Department of Pediatrics, Center for Human Immunobiology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, United States.
Poli MC; Section of Immunology, Allergy and Rheumatology, Department of Pediatrics, Center for Human Immunobiology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, United States.

Front Pediatr ; 7: 303, 2019.

Article en En | MEDLINE | ID: mdl-31417880

Palabras clave

NF-κB2; NK cell deficiency; common variable immunodeficiency (CVID); nephrotic syndrome; pituitary deficiency; primary immunodeficiency; systemic cytomegalovirus

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Año: 2019 Tipo del documento: Article

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Año: 2019 Tipo del documento: Article