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Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency
Jocelyn R Farmer1, Zsofia Foldvari2, Boglarka Ujhazi3
1Massachusetts General Hospital, Harvard Medical School, Boston, Mass.
The Journal of Allergy and Clinical Immunology. in Practice
|March 17, 2019
Summary
Recombination activating gene (RAG) deficiency often presents with severe autoimmunity and hyperinflammation, frequently diagnosed late. Many autoimmune cytopenias are resistant to standard treatments, necessitating hematopoietic stem cell transplantation.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Autoimmunity and hyperinflammation in Recombination Activating Gene (RAG) deficiency are severe but poorly understood.
- Current knowledge is limited to small case series, hindering diagnosis and treatment.
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