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Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.
Jia, Alicia; James, Elliot; Lu, Henry Y; Sharma, Mehul; Modi, Bhavi P; Biggs, Catherine M; Hildebrand, Kyla J; Chomyn, Alanna; Erdle, Stephanie; Kular, Hasandeep; Turvey, Stuart E.
Afiliación
  • Jia A; Division of Allergy and Clinical Immunology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
  • James E; Department of Microbiology and Immunology, Vancouver, British Columbia V5Z 4H4, Canada.
  • Lu HY; Division of Allergy and Clinical Immunology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
  • Sharma M; Division of Allergy and Clinical Immunology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
  • Modi BP; Experimental Medicine Program, Faculty of Medicine, Vancouver, British Columbia V5Z 4H4, Canada.
  • Biggs CM; Division of Allergy and Clinical Immunology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
  • Hildebrand KJ; Experimental Medicine Program, Faculty of Medicine, Vancouver, British Columbia V5Z 4H4, Canada.
  • Chomyn A; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada.
  • Erdle S; Division of Allergy and Clinical Immunology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
  • Kular H; Division of Allergy and Clinical Immunology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
  • Turvey SE; Division of Allergy and Clinical Immunology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
Cold Spring Harb Mol Case Stud ; 6(3)2020 06.
Article en En | MEDLINE | ID: mdl-32532880
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sustitución de Aminoácidos / Alelos / Quinasas Asociadas a Receptores de Interleucina-1 / Enfermedades de Inmunodeficiencia Primaria / Homocigoto Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2020 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sustitución de Aminoácidos / Alelos / Quinasas Asociadas a Receptores de Interleucina-1 / Enfermedades de Inmunodeficiencia Primaria / Homocigoto Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2020 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos