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Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.
Saettini, Francesco; Fazio, Grazia; Moratto, Daniele; Galbiati, Marta; Zucchini, Nicola; Ippolito, Davide; Dinelli, Marco Emilio; Imberti, Luisa; Mauri, Mario; Melzi, Maria Luisa; Bonanomi, Sonia; Gerussi, Alessio; Pinelli, Marinella; Barisani, Chiara; Bugarin, Cristina; Chiarini, Marco; Giacomelli, Mauro; Piazza, Rocco; Cazzaniga, Giovanni; Invernizzi, Pietro; Giliani, Silvia Clara; Badolato, Raffaele; Biondi, Andrea.
Affiliation
  • Saettini F; Pediatric Hematology Outpatient Clinic, Department of Pediatrics, Fondazione MBBM, Monza, Italy.
  • Fazio G; Centro Ricerca Tettamanti, University of Milano Bicocca, Monza, Italy.
  • Moratto D; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili, Brescia, Italy.
  • Galbiati M; Centro Ricerca Tettamanti, University of Milano Bicocca, Monza, Italy.
  • Zucchini N; Division of Pathology, San Gerardo Hospital, ASST Monza, Monza, Italy.
  • Ippolito D; Department of Diagnostic Radiology, San Gerardo Hospital, Monza, Italy.
  • Dinelli ME; Endoscopy Unit, San Gerardo Hospital, ASST, Monza, Italy.
  • Imberti L; Centro di Ricerca Emato-oncologica AIL (CREA), ASST Spedali Civili, Brescia, Italy.
  • Mauri M; Department of Medicine and Surgery, University of Milano Bicocca and San Gerardo Hospital, Monza, Italy.
  • Melzi ML; Department of Pediatrics, Fondazione MBBM, Monza, Italy.
  • Bonanomi S; Pediatric Hematology Outpatient Clinic, Department of Pediatrics, Fondazione MBBM, Monza, Italy.
  • Gerussi A; Division of Gastroenterology, Centre for Autoimmune Liver Diseases, Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
  • Pinelli M; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), San Gerardo Hospital, Monza, Italy.
  • Barisani C; Cytogenetic and Medical Genetic Unit, Department of Molecular and Translational medicine, A. Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, Brescia, Italy.
  • Bugarin C; Cytogenetic and Medical Genetic Unit, Department of Molecular and Translational medicine, A. Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, Brescia, Italy.
  • Chiarini M; Centro Ricerca Tettamanti, University of Milano Bicocca, Monza, Italy.
  • Giacomelli M; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili, Brescia, Italy.
  • Piazza R; Cytogenetic and Medical Genetic Unit, Department of Molecular and Translational medicine, A. Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, Brescia, Italy.
  • Cazzaniga G; Department of Medicine and Surgery, University of Milano Bicocca and San Gerardo Hospital, Monza, Italy.
  • Invernizzi P; Centro Ricerca Tettamanti, University of Milano Bicocca, Monza, Italy.
  • Giliani SC; Department of Medicine and Surgery, University of Milano Bicocca and San Gerardo Hospital, Monza, Italy.
  • Badolato R; Division of Gastroenterology, Centre for Autoimmune Liver Diseases, Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
  • Biondi A; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), San Gerardo Hospital, Monza, Italy.
Front Immunol ; 12: 673487, 2021.
Article in En | MEDLINE | ID: mdl-33936120
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cholangitis, Sclerosing / Guanine Nucleotide Exchange Factors / Primary Immunodeficiency Diseases Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Journal: Front Immunol Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Switzerland
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cholangitis, Sclerosing / Guanine Nucleotide Exchange Factors / Primary Immunodeficiency Diseases Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Journal: Front Immunol Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Switzerland