Name of the disease	Gene involved Protein	Transmission	Primary clinical signs
Deficiency of mevalonate kinase	MVK MVK	Autosomal recessive	Recurrent fevers (5–10 days), buccal aphthae, cervical adenopathies, abdominal pain, enteritis, oligoarthritis, cerebellar ataxia, bacterial infections
A20 Haploinsufficiency	TNFAIP3 A20	Autosomal dominant	Recurrent fevers, buccal and genital aphthae, cutaneous ulcerations/abscesses, uveitis, particularly anterior, enterocolitis, autoimmunity and variable hypogammaglobulinemia
PAAND (pyrin-associated autoinflammation with neutrophilic dermatosis)	MEFV Pyrine	Autosomal dominant	Recurrent fevers, buccal aphthae, acne, pyoderma gangrenosum, suppurative hidrosadenitis
Syndrome PFIT periodic fever, immunodeficiency, and thrombocytopenia	WDR1 WDR1	Autosomal recessive	Recurrent fevers, buccal and perianal inflammation, marked microstomy), cellulites, thrombopenia, opportunist infections
PFAPA syndrome periodic fever, aphthosis, pharyngitis, adenitis	No gene known	NA	Recurrent fevers (3-8 days), buccal aphthae, cervical adenopathies, abdominal pain
Crohn’s disease	NOD2/CARD15 NOD2/CARD15	Autosomal recessive 10% of Crohn’s Disease	Extended fever, bipolar aphthosis, oligoarthritis or SPA, enterocolitis