Rare Disease Library

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Acquired immunodeficiency

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

Combined immunodeficiency due to ZAP70 deficiency

Zeta-associated-protein 70 deficiency

FADD-related immunodeficiency

Immunodeficiency-associated lymphoproliferative disease

Reticular dysgenesis-like severe combined immunodeficiency

Reticular dysgenesis-like SCID · Activated Rac2 defect

T-B+ severe combined immunodeficiency due to gamma chain deficiency

SCIDX1 · T-B+ SCID due to gamma chain deficiency

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

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