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Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants.
Edwards, Emily S J; Ojaimi, Samar; Ngui, James; Seo, Go Hun; Kim, JiHye; Chunilal, Sanjeev; Yablonski, Deborah; O'Hehir, Robyn E; van Zelm, Menno C.
Afiliação
  • Edwards ESJ; Allergy and Clinical Immunology Laboratory, Department of Immunology, Central Clinical School, Monash University, Melbourne, Australia; Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, Australia.
  • Ojaimi S; Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, Australia; Monash Pathology, Monash Health, Melbourne, Australia; Monash Infectious Diseases, Monash Health, Melbourne, Australia; Monash Lung Sleep Allergy Immunology, Monash Health, Melbourne, Australia; Depar
  • Ngui J; Monash Pathology, Monash Health, Melbourne, Australia.
  • Seo GH; Division of Medical Genetics, 3billion Inc, Seoul, Korea.
  • Kim J; Division of Medical Genetics, 3billion Inc, Seoul, Korea.
  • Chunilal S; Department of Pathology and Radiology, Monash Health, Melbourne, Australia.
  • Yablonski D; Department of Immunology, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • O'Hehir RE; Allergy and Clinical Immunology Laboratory, Department of Immunology, Central Clinical School, Monash University, Melbourne, Australia; Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, Australia; Department of Allergy, Immunology and Respiratory Medicine, Cent
  • van Zelm MC; Allergy and Clinical Immunology Laboratory, Department of Immunology, Central Clinical School, Monash University, Melbourne, Australia; Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, Australia; Department of Allergy, Immunology and Respiratory Medicine, Cent
J Allergy Clin Immunol ; 152(3): 807-813.e7, 2023 09.
Article em En | MEDLINE | ID: mdl-37211057
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Imunodeficiência Combinada Severa / Fosfatidilinositol 3-Quinases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Imunodeficiência Combinada Severa / Fosfatidilinositol 3-Quinases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article