1. Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency
- Author
-
Michael S. Hershfield, Yackov Berkun, Tal Ben-Ami, Orly Elpeleg, Michael Weintraub, Polina Stepensky, Shoshana Revel-Vilk, Susan J. Kelly, Nancy J. Ganson, Rebecca Brooks, Shlomit Kfir-Erenfeld, and Avraham Shaag
- Subjects
Male ,0301 basic medicine ,Adenosine Deaminase 2 Deficiency ,Adenosine Deaminase ,Pure red cell aplasia ,03 medical and health sciences ,0302 clinical medicine ,Adenosine deaminase ,Humans ,Medicine ,Diamond–Blackfan anemia ,Child ,Clinical phenotype ,Exome sequencing ,030203 arthritis & rheumatology ,biology ,business.industry ,Infant ,medicine.disease ,Phenotype ,030104 developmental biology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Immunology ,biology.protein ,Intercellular Signaling Peptides and Proteins ,Female ,business ,Vasculitis ,Metabolism, Inborn Errors - Abstract
Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with no evidence for vasculitis.
- Published
- 2016