Rare Disease Library

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

NLRC4-related autoinflammatory syndrome with MAS · NLRC4-related MAS

Autoinflammatory syndrome

Autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Autoinflammatory syndrome with immune deficiency

Autoinflammatory syndrome with skin involvement

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

F12-associated cold autoinflammatory syndrome

FACAS

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Macrophage activation syndrome

Mixed autoinflammatory and autoimmune syndrome

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD