Rare Diseases Symptoms Automatic Extraction

Interleukin 1 receptor-associated kinase 1 (IRAK1) mutation is a common, essential driver for Kaposi sarcoma herpesvirus lymphoma.

[waldenström macroglobulinemia]

Primary effusion lymphoma (PEL) is an AIDS-defining cancer. All PELs carry Kaposi sarcoma-associated herpesvirus (KSHV). X chromosome-targeted sequencing of PEL identified 34 common missense mutations in 100% of cases. This included a Phe196Ser change in the interleukin 1 receptor-associated kinase 1 (IRAK1). The mutation was verified in primary PEL exudates. IRAK1 is the binding partner of MyD88, which is mutated in a fraction of Waldenström macroglobulinemia. Together, these two mediate toll-like receptor (TLR) signaling. IRAK1 was constitutively phosphorylated in PEL and required for survival, implicating IRAK1 and TLR signaling as a driver pathway in PEL and as a new drug development target.

Diseases presenting "lymphoma" symptom

  • adrenal incidentaloma
  • alpha-thalassemia
  • carcinoma of the gallbladder
  • cushing syndrome
  • dedifferentiated liposarcoma
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • familial hypocalciuric hypercalcemia
  • focal myositis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • kabuki syndrome
  • liposarcoma
  • locked-in syndrome
  • monosomy 21
  • oculocutaneous albinism
  • primary effusion lymphoma
  • severe combined immunodeficiency
  • systemic capillary leak syndrome
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome

This symptom has already been validated