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Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation

Neves, João Farela, MD*,†; Raga, Lamberto Torralba, PhD; Chiang, Samuel C. C., PhD; Tesi, Bianca, PhD§,¶; Vieira, José Pedro, MD; Cordeiro, Ana Isabel, MD*; Borrego, Luis, PhD†,**; Bryceson, Yenan T., PhD

The Pediatric Infectious Disease Journal: February 2019 - Volume 38 - Issue 2 - p e29–e31
doi: 10.1097/INF.0000000000002154
Pathogenesis and Host Response

Very rarely, patients with X-linked lymphoproliferative syndrome type 1 present central nervous system vasculitis. 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. We propose that impaired T cell homeostasis caused by SAP deficiency facilitates aberrant CD8+ T cell activation against vascular antigens promoting clinical manifestations.

From the *Department of Pediatrics, Primary Immunodeficiencies Unit, Hospital Dona Estefânia- CHLC, EPE

Department of Pediatrics, CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal

Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge

§The Childhood Cancer Research Unit, Department of Women’s and Children’s Health, Karolinska Institute, Karolinska University Hospital Solna

The Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden

Department of Pediatrics, Neurology Service, Hospital Dona Estefânia- CHLC, EPE, Lisbon, Portugal

**Hospital CUF Descobertas, Immunoallergy Department, Lisbon, Portugal.

Accepted for publication May 21, 2018.

A written informed consent from the patient’s mother has been obtained.

The authors have no funding or conflicts of interest to disclose.

Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal’s website (

Address for correspondence: João Farela Neves, ORCID 0003-3963-2331, Infectious Diseases Unit, Primary Immunodeficiencies Unit, Hospital Dona Estefania, Pediatric University Hospital, Rua Jacinta Marto, 1169-045 Lisbon, Portugal. E-mail:

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