Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches

Table 3 Main monogenic IL-18/IL-36 signaling pathway defect-induced autoinflammatory disorders

Disorder	Gene	Inheritance	OMIM	Clinical features
DITRA	IL-36RN	AR	614204	Pustular psoriasis, fever
NAD	NLRC4	AD GOF	616050/616115	Enterocolitis, rash, fever and macrophage activation syndrome
PFIT	WDR1	AR	604734	Fever, infection, oral inflammation, perianal ulcers
CAMPS	CARD14	AD	602723	Familial psoriasis

AD (autosomal dominant); AR (autosomal recessive); CAMPS (caspase recruitment domain family member 14-mediated psoriasis); DITRA (deficiency of IL-36 receptor antagonist); GOF (gain-of-function); NAD (NLR family CARD domain containing 4 autoinflammatory disease); PFIT (autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia)

ISSN: 2523-3106