Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2
Primary progress has been made in the last 2 years, particularly in finding novel disease-causing genes for a number of autoinflammatory diseases and primary immunodeficiencies. Whole-exome sequencing has dramatically increased the pace at which causative genes are being discovered. CECR1 (Cat eye s...
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| Veröffentlicht in: | Journal of pediatric hematology/oncology 2017-07, Vol.39 (5), p.e293-e296 |
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| container_issue | 5 |
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| container_title | Journal of pediatric hematology/oncology |
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| creator | Hashem, Hasan Egler, Rachel Dalal, Jignesh |
| description | Primary progress has been made in the last 2 years, particularly in finding novel disease-causing genes for a number of autoinflammatory diseases and primary immunodeficiencies. Whole-exome sequencing has dramatically increased the pace at which causative genes are being discovered. CECR1 (Cat eye syndrome chromosome region, candidate 1) gene encodes adenosine deaminase 2 (ADA2) protein. Patients who carry CECR1 mutation(s) suffer from deficiency of ADA2 (DADA2). Here, we describe a patient with pure red cell aplasia discovered to have DADA2. We also review the literature on DADA2. This report will help raise awareness of physicians for this complex disease. |
| doi_str_mv | 10.1097/MPH.0000000000000805 |
| format | Article |
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| identifier | ISSN: 1077-4114 |
| ispartof | Journal of pediatric hematology/oncology, 2017-07, Vol.39 (5), p.e293-e296 |
| issn | 1077-4114 1536-3678 |
| language | eng |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | Adenosine Deaminase - deficiency Bone Marrow Transplantation - methods Child, Preschool Diagnosis, Differential Humans Intercellular Signaling Peptides and Proteins - deficiency Male Red-Cell Aplasia, Pure - complications Red-Cell Aplasia, Pure - diagnosis Sequence Analysis, DNA Severe Combined Immunodeficiency - diagnosis |
| title | Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2 |
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