Buscar recursos académicos

BackgroundAlthough the association between disorders of immunity and cancer risk is recognized, the prevalence of different malignancies in this population remains incompletely characterized. Large electronic health reco...

RationaleGenetic testing can reveal a molecular diagnosis in 20–40% of patients with inborn errors of immunity (IEI) such as predominantly antibody deficiencies (PAD), though this varies by IEI type and other factors. ...

DNA ligase IV (LIG4) is essential for repairing breaks in double-stranded DNA via nonhomologous end-joining in developing lymphocytes and is particularly important for V(D)J recombination. First described in the early 20...

Background and AimsAcquired immunodeficiency in patients with hematological oncology is a serious and common complication, significantly impacting prognosis and quality of life. High doses of cytostatic drugs and the mal...

Unexplained coagulopathy with persistent anemia presents a significant diagnostic challenge and requires a broad differential. Isolated coagulation factor deficiencies are uncommon and described only sporadically in the ...

BackgroundNewborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) enables early detection of disorders affecting T cell development. While low TRECs typically indicate...

Hypereosinophilic syndrome (HES) is characterized by blood or tissue hypereosinophilia leading to organ damage or dysfunction. HES is most commonly secondary or idiopathic, but may be primary (myeloid) or familial. Here,...