Auto-Inflamm/Auto-Immune

Question 1

AR inherited disease with genetic mutation in the MEFV gene (pyren-marenostrin inflammasome complex) leading to failure to regulate neutrophils

Answer 1

Familial mediterranean fever

Question 2

mutation of genes encoding the FAS pathway leading to failure of apoptosis of lymphocytes. may present with autoimmune cytopenias and is assocaited with lymphoma. HSM, large LN

Answer 2

ALPS

Autoimmune lymphoproliferative syndrome

Question 3

Single gene mutation involving MEFV and affecting the inflammasome complex, resulting in recurrent episodes of serositis

Answer 3

FMF

Question 4

Single gene mutation involving FOXp3 resulting in abnormality of T reg cells

Answer 4

IPEX

Question 5

Mutation within the Fas pathway associated with lymphocytosis, lymphomas and auto-immune cytopenias

Answer 5

ALPS

Question 6

Treatment for FMF

Answer 6

Colchicine 500ug bd - binds to tubulin in neutrophils and disrupts neutrophil functions including migration and chemokine secretion

Anakinra (Interleukin 1 receptor antagonist)
Etanercept (TNF alpha inhibitor)
Type 1 interferon