Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the <i>ATM</i> Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma

• Main Authors: Jan R. Dörr (Author), Anne Thorwarth (Author), Agnieszka Mizia-Malarz (Author), Josefine Radke (Author), Anna Tietze (Author), Pablo Hernáiz-Driever (Author), Denise Horn (Author), Alexander Gratopp (Author), Angelika Eggert (Author), Hedwig E. Deubzer (Author)
• Format: Book
• Published: MDPI AG, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

We here report the case of a 2-year-old patient with a primary central nervous system lymphoma of B-cell origin. Due to their past medical history of repeated respiratory tract infections and the marked chemotherapy-associated toxicity and infectious comorbidity, we suspected that the patient also s...