Rare Disease Library

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

Autoinflammatory syndrome

Autoinflammatory syndrome of childhood

Autoinflammatory syndrome with immune deficiency

Autoinflammatory syndrome with skin involvement

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

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

Familial cold urticaria

FCAS · FCU

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Genetic autoinflammatory syndrome with skin involvement

Granulomatous autoinflammatory syndrome

Granulomatous autoinflammatory syndrome of childhood

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

Mixed autoinflammatory and autoimmune syndrome

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

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

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Pyogenic autoinflammatory syndrome

Pyogenic autoinflammatory syndrome of childhood

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

Unclassified autoinflammatory syndrome

Unclassified autoinflammatory syndrome of childhood