syndromic multisystem autoimmune disease

Pathology

• autoimmune inflammatory cell infiltration of the lungs, liver & gut

Genetics

• associated with defects in ITCH

Clinical manifestations

• organomegaly
• failure to thrive
• developmental delay
• dysmorphic features

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/613385