Rare Diseases Symptoms Automatic Extraction

X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations.

[wiskott-aldrich syndrome]

The authors describe two young brothers and a 12-year-old male with long-standing thrombocytopenia with normal sized platelets, in whom novel mutations of the WAS gene were identified. Their clinical picture and the in vitro assessment of the T-cell function were consistent with X-linked thrombocytopenia (XLT). A high index of suspicion for XLT is required, even in the setting of normal sized platelets for males with affected maternally-related male family members, and males with moderately severe chronic thrombocytopenia that have failed to respond to treatments that are usually effective for immune thrombocytopenia. Pediatr Blood Cancer 2014;61:2305-2306. © 2014 Wiley Periodicals, Inc.

Diseases presenting "thrombocytopenia" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • dedifferentiated liposarcoma
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • heparin-induced thrombocytopenia
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • liposarcoma
  • malignant atrophic papulosis
  • monosomy 21
  • oculocutaneous albinism
  • scrub typhus
  • sneddon syndrome
  • typhoid
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome

This symptom has already been validated