Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Immune dysregulation

Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.


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(per page)
PMID (PMCID)
28660405
FEMALE
Xanthogranulomatous osteomyelitis of the humerus in a pediatric patient with Alagille syndrome: a case report and literature review.
Cheema A, Arkader A, Pawel B.
Skeletal Radiol. 2017;46(10):1447-1452.
In the discussion section, we explore how osteopenia and immune dysregulation caused by Alagille syndrome can affect the development of XO.