IllnessAdenosine deaminase 2 deficiency, differential diagnosis

NGS +

Adenosine deaminase 2 (ADA2) deficiency is characterized by abnormal inflammation of various tissues with symptoms beginning anytime from infancy to adulthood. The severity of the disorder varies even among affected individuals in the same family. ADA2 deficiency causes abnormal, unprovoked inflammation that can damage tissues and organs, particularly by vasculitides in the skin, gastrointestinal system, liver, kidneys and nervous system. Depending on the severity and location of the inflammation, the disorder can cause disability or be life-threatening with fevers, livedo racemosa, hepatosplenomegaly and recurrent strokes. Some patients suffer from additional immune system abnormalities increasing the risk of bacterial and viral infections. ADA2 deficiency is sometimes, but not unanimously, described as a form of polyarteritis nodosa, a disorder that causes systemic vasculitis. ADA2 deficiency is inherited in an autosomal recessive pattern. The DNA-diagnostic yield is not known, but it depends seriously on the quality of the clinical evaluation.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK544951/

• Sympt.: Vasculitis, autoinflammation, immunodeficiency, hematologic defects syndrome (ADA2)
• Alias: ADA2 Deficiency
• Allelic: Emberger syndrome (GATA2)
• Allelic: Gastric cancer, somatic (CASP10)
• Allelic: Leukemia, acute myeloid, susceptibility to (GATA2)
• Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
• Allelic: Lung cancer, susceptibility to (FASL)
• Allelic: Lymphoma, non-Hodgkin, somatic (CASP10)
• Allelic: Myelodysplastic syndrome, susceptibility to (GATA2)
• Allelic: Sneddon syndrome [Livedo reticularis + cerebrovascular accidents] (ADA2)
• Allelic: Squamous cell carcinoma, burn scar-related, somatic (FAS)
• Allelic: Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Allelic: Thrombocytopenia, XL, with/out dyserythropoietic anemia (GATA1)
• Adenosine deaminase deficiency, partial (ADA)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Autoimmune lymphoproliferative syndrome, type IA (FAS)
• Autoimmune lymphoproliferative syndrome, type IB (FASL)
• Autoimmune lymphoproliferative syndrome, type II (CASP10)
• Diamond-Blackfan anemia 1 (RPS19)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 12 (RPL15)
• Diamond-Blackfan anemia 13 (RPS29)
• Diamond-Blackfan anemia 14 with mandibulofacial dysostosis (TSR2)
• Diamond-Blackfan anemia 3 (RPS24)
• Diamond-Blackfan anemia 4 (RPS17)
• Diamond-Blackfan anemia 5 (RPL35A)
• Diamond-Blackfan anemia 6 (RPL5)
• Diamond-Blackfan anemia 7 (RPL11)
• Diamond-Blackfan anemia 8 (RPS7)
• Diamond-Blackfan anemia 9 (RPS10)
• Diamond-Blackfan syndrome (RPL9)
• Immunodeficiency 21 (GATA2)
• Severe combined immunodeficiency due to ADA deficiency (ADA)