Rare Disease Library

X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency

DEX · X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

APLAID

Autoinflammatory syndrome with immune deficiency

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Immune dysregulation disease with immunodeficiency associated with EBV susceptibility

Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility

Immunodeficiency-associated lymphoproliferative disease

Inflammatory and autoimmune disease with epilepsy

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy