has material basis in germline mutation in FADD FADD-related immunodeficiency https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/immunodeficiency_90_with_encephalopathy_functional_hyposplenia_and_hepatic_dysfunction infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations NANDO:2200741 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 GARD:0015004 icd11.foundation:440676168 FADD-related immunodeficiency UMLS:C3151062 MONDO:0013408 OMIM:613759 DOID:0061060 MEDGEN:462412 immunodeficiency disease