Publications by authors named "M Spangenberg"

Timeline and genetic analysis of a 55-year-old female with a family history of gastric cancer and multiple myeloma, who was diagnosed with AML and a germline CEBPA variant.

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Background: Common variable immunodeficiency disorders (CVIDs), which are primary immunodeficiencies characterized by the failure of primary antibody production, typically present with recurrent bacterial infections, decreased antibody levels, autoimmune features, and rare atypical manifestations that can complicate diagnosis and management. Although most cases are sporadic, approximately 10% of the patients may have a family history of immunodeficiency. Genetic causes involving genes related to B-cell development and survival have been identified in only a small percentage of cases.

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A search for a long-lived, heavy neutral lepton (N) in 139  fb^{-1} of sqrt[s]=13  TeV pp collision data collected by the ATLAS detector at the Large Hadron Collider is reported. The N is produced via W→Nμ or W→Ne and decays into two charged leptons and a neutrino, forming a displaced vertex. The N mass is used to discriminate between signal and background.

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Article Synopsis
  • A 53-year-old woman in Uruguay was diagnosed with Shwachman-Diamond syndrome (SDS), a rare genetic disorder, presenting atypically in adulthood rather than the usual pediatric onset.
  • She exhibited bone marrow failure, anemia, thrombocytopenia, and unusual symptoms like cirrhosis and skin issues, which led to various tests before reaching the correct diagnosis through whole-exome sequencing.
  • This case highlights the importance of genetic testing, as an earlier diagnosis might have improved her medical management and overall outcome, addressing symptoms that had been unrecognized for a decade.
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