Macrophage activation syndrome

Also known as: MAS

HLH-like complication of rheumatic disease, especially systemic juvenile idiopathic arthritis.

Medical specialty: Hematology
Subspecialty: Hematology / Histiocytic disorders
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: PRF1, STXBP2, UNC13D

Etiology & mechanism

Cytokine storm with macrophage activation.

Gene(s) involved (3)

PRF1STXBP2UNC13D

Symptoms & signs (6)

coagulopathycytopeniaselevated ferritinfalling esrfeverhepatosplenomegaly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.