Federica Barzaghi Federica Minniti Margherita Mauro Massimiliano De Bortoli Rita Balter Elisa Bonetti Ada Zaccaron Virginia Vitale Maryam Omrani Matteo Zoccolillo Immacolata Brigida Maria Pia Cicalese Massimo Degano Michael S Hershfield Alessandro Aiuti Anastasiia V Bondarenko Matteo Chinello Simone Cesaro
10.3389/fimmu.2018.02767
Front Immunol
2019 Jan 14;9:2767.
ada2 ada2 deficiency alps cecr1 hsct autoimmunity immunodeficiency neutropenia
CC BY
https://pubmed.ncbi.nlm.nih.gov/30692987/
Adenosine Deaminase / deficiency Autoimmune Lymphoproliferative Syndrome / therapy Hematopoietic Stem Cell Transplantation Intercellular Signaling Peptides and Proteins / deficiency Transplantation Conditioning Unrelated Donors
Adenosine Deaminase / deficiency Autoimmune Lymphoproliferative Syndrome / therapy Hematopoietic Stem Cell Transplantation Intercellular Signaling Peptides and Proteins / deficiency Transplantation Conditioning Unrelated Donors Case Reports Research Support, Non-U.S. Gov't Adenosine Deaminase / immunology Apoptosis / drug effects Apoptosis / immunology Autoimmune Lymphoproliferative Syndrome / enzymology Autoimmune Lymphoproliferative Syndrome / immunology Autoimmune Lymphoproliferative Syndrome / pathology Child, Preschool Female Granulocyte Colony-Stimulating Factor / administration & dosage Humans Intercellular Signaling Peptides and Proteins / immunology Neutropenia / enzymology Neutropenia / immunology Neutropenia / pathology Neutropenia / therapy Transplantation, Homologous fas Receptor / immunology FAS protein, human Intercellular Signaling Peptides and Proteins fas Receptor Granulocyte Colony-Stimulating Factor ADA2 protein, human Adenosine Deaminase
PMC6339927
30692987
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation
2019