Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
September 5, 2025Annals of Medicine and SurgeryOpen Access

First case of primary CNS lymphoma in a patient with severe combined immunodeficiency carrying a novel ZAP70 mutation: a case report

View Full Paper
Ask AI
Bookmark
Share

Authors

MAMohammed Hady AlbitarASAhmed Gamal SayedFJFaisal Joueidi

Discussion

Loading...

Member takes

Overview

Case report reveals EBV-positive CNS lymphoma linked to ZAP70 mutations in a young patient, implying diagnostic need.

Key Points

  • This case presents the first instance of primary central nervous system lymphoma in a patient with a ZAP70 mutation.
  • At 18 years, immunological testing showed significant T-cell lymphopenia and genetic analysis revealed a splice-site mutation in ZAP70.
  • MRI findings showed three lesions which were confirmed to be EBV-positive diffuse large B-cell lymphoma after biopsy.
  • The findings indicate that ZAP70 deficiency can lead to malignancies and highlight the importance of early genetic screening.

Cite This Study

Albitar et al. (2025) studied this question.

synapsesocial.com/papers/68bb5f7a6d6d5674bcd03a41https://doi.org/10.1097/ms9.0000000000003591
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants2026
  2. 2ZAP-70 mutation: a case with familial autoimmune haemolytic anaemia and immune deficiency2024 · 1 citations
  3. 3A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-702016 · 102 citations
  4. 4Pediatric Plasmablastic Lymphoma in the Setting of CD70 Deficiency2024
  5. 5An Expanding Shadow in the Brain: A Case Series with a Review of Literature on Primary CNS Lymphoma2025