Biological Treatments: New Weapons in the Management of Monogenic Autoinflammatory Disorders

Table 1

Basic genetic and clinical keys of the monogenic autoinflammatory disorders discussed in the review.

Disease	Gene; (Locus)	Protein	Inheritance	Prominent clinical features or potential complications
FMF	MEFV; (16p13.3)	Pyrin	AR	Recurrent fever, serositis (abdominal and chest pain), arthralgias or arthritides, erysipelas-like skin eruption on the legs, good response to colchicine, and amyloidosis in untreated, resistant, and noncompliant patients
TRAPS	TNFRSF1A; (12p13)	Tumor necrosis factor receptor 1	AD	Recurrent fever, migrating muscle and joint involvement, abdominal pain, serosal inflammatory involvement, steroid responsiveness of febrile attacks, conjunctivitis, periorbital edema, and amyloidosis
FCAS				Recurrent fever, and cold-induced urticaria-like rash, conjunctivitis, arthralgias
MWS	NLRP3; (1q44)	Cryopyrin	AD	Recurrent fever, urticaria-like rash, conjunctivitis, arthralgias, sensorineuroal deafness, and amyloidosis
NOMID				Subcontinuous fever, chronic urticaria-like rash, uveitis, papilledema, deforming arthritides involving large joints (knees), aseptic chronic meningopathy, sensorineuroal deafness, and amyloidosis
MKD	MVK; (12q24)	Mevalonate kinase	AR	Recurrent fever, polymorphous rash, arthralgias, abdominal pain, diarrhea, lymph node enlargement, headache, splenomegaly, oral and genital aphthosis, and high rate of self-resolution during adulthood
NLRP12AD	NLRP12; (19q13)	Monarch-1	AD	Recurrent fever after cold exposure, arthralgias, and cold-induced urticaria-like rash
BS	NOD2; (CARD15); (16q12.1–13)	NOD2	AD	Intermittent fever, granulomatous dermatitis with ichthyosis-like changes, granulomatous polyarthritis, recurrent panuveitis, and onset before 5 years
MS	LPIN2; (18p11.31)	Lipin 2	AR	Recurrent multifocal osteomyelitis, dyserythropoietic anemia, and chronic dermatosis
PAPAs	PSTPIP1; (15q24–q25.1)	CD2 antigen-binding protein 1	AD	Pyoderma gangrenosum, cystic acne, and sterile pyogenic oligoarthritis
DIRA	IL1RN; (2q14)	Interleukin-1 receptor antagonist	AR	Neonatal onset-multifocal osteomyelitis, periostitis, neonatal onset-pustular rash, and dramatic response to anakinra

FMF: familial Mediterranean fever; TRAPS: tumor necrosis factor receptor-associated periodic syndrome; FCAS: familial cold autoinflammatory syndrome; MWS: Muckle-Wells syndrome; NOMID: neonatal onset multisystem inflammatory disease; MKD: mevalonate kinase deficiency syndrome; NLRP12AD: NLRP12-associated autoinflammatory disorder; BS: Blau syndrome; MS: Majeed syndrome; PAPAs: pyogenic arthritis, pyoderma gangrenosum, acne syndrome; DIRA: deficiency of interleukin-1 receptor antagonist; AR: autosomal recessive; AD: autosomal dominant.