1 - Department of Pediatrics, Primary Immunodeficiencies Unit, Hospital Dona Estefânia- CHLC, EPE
2 - Department of Pediatrics, CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal;
3 - Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge;
4 - The Childhood Cancer Research Unit, Department of Women’s and Children’s Health, Karolinska Institute, Karolinska University Hospital Solna;
5 - The Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden;
6 - Department of Pediatrics, Neurology Service, Hospital Dona Estefânia- CHLC, EPE, Lisbon, Portugal;
7 - Hospital CUF Descobertas, Immunoallergy Department, Lisbon, Portugal.
- Publicado em Infectious Disease Journalv volume 38, número 2, fevereiro 2019
Introdução: Very rarely, patients with X-linked lymphoproliferative syn- drome type 1 present central nervous system vasculitis.
Caso Clínico: We report a patient carrying a SH2D1A mutation that, after treatment for lymphoma developed fatal central nervous system vasculitis. He lacked signs of ongoing Epstein– Barr virus infection.
Conclusão: We propose that impaired T cell homeostasis caused by SAP deficiency facilitates aberrant CD8+ T cell activation against vascular antigens promoting clinical manifestations.
Palavras Chave: CNS vasculitis, EBV, lymphoma, XLP1, SAP