Gianluca Dell'Orso Alice Grossi Federica Penco Roberta Caorsi Elena Palmisani Paola Terranova Francesca Schena Michela Lupia Erica Ricci Shana Montalto Filomena Pierri Isabella Ceccherini Francesca Fioredda Carlo Dufour Marco Gattorno Maurizio Miano
10.3389/fimmu.2021.754029
Front Immunol
2021 Oct 14;12:754029.
dada2 autoimmune lymphoproliferative syndrome (alps) bone marrow failure (bmf) inborn errors of immunity (iei) next-generation sequencing (ngs) primary immune regulatory disorders (pirds)
CC BY
https://pubmed.ncbi.nlm.nih.gov/34721429/
Adenosine Deaminase / deficiency Autoimmune Lymphoproliferative Syndrome / genetics Bone Marrow Failure Disorders / genetics Intercellular Signaling Peptides and Proteins / deficiency
Adenosine Deaminase / deficiency Autoimmune Lymphoproliferative Syndrome / genetics Bone Marrow Failure Disorders / genetics Intercellular Signaling Peptides and Proteins / deficiency Case Reports Research Support, Non-U.S. Gov't Adrenal Cortex Hormones / therapeutic use Anemia, Hemolytic, Autoimmune / genetics Blood Component Transfusion Child, Preschool Combined Modality Therapy Delayed Diagnosis Fatal Outcome Genes, Recessive Genetic Association Studies High-Throughput Nucleotide Sequencing Humans Immunosuppressive Agents / therapeutic use Iron Chelating Agents / therapeutic use Multiple Organ Failure / etiology Mutation, Missense Pedigree Pulmonary Embolism / etiology Purpura, Thrombocytopenic, Idiopathic / genetics STAT3 Transcription Factor / genetics Splenectomy Symptom Assessment Adrenal Cortex Hormones Immunosuppressive Agents Intercellular Signaling Peptides and Proteins Iron Chelating Agents STAT3 Transcription Factor STAT3 protein, human ADA2 protein, human Adenosine Deaminase
PMC8552009
34721429
Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure
2021