has material basis in germline mutation in
FADD
FADD-related immunodeficiency
https://github.com/monarch-initiative/mondo/issues/4521
infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
GARD:15004
A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.
immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction
Orphanet:306550
Fadd deficiency
SCTID:723334006
FADD-related immunodeficiency
UMLS:C3151062
MONDO:0013408
OMIM:613759
immunodeficiency disease