Details of Disease

General Information of Disease (ID: DISLH7O6)

• Disease Name: FADD-related immunodeficiency
• Synonyms: infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations; Fadd deficiency; immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction; FADD-related immunodeficiency
• Definition: 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.
• Disease Hierarchy:
  DIS093I0: Immunodeficiency
  DISLH7O6: FADD-related immunodeficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013408
  UMLS CUI: C3151062
  OMIM ID: 613759
  MedGen ID: 462412
  Orphanet ID: 306550

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FADD	OTV7GFHH	Strong	Autosomal recessive	[1]
RHEB	OTFLTSEC	Strong	Altered Expression	[2]

References

• [1] T cell-specific FADD-deficient mice: FADD is required for early T cell development. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6307-12. doi: 10.1073/pnas.111158698. Epub 2001 May 15.
• [2] Fas-associated protein with death domain (FADD) regulates autophagy through promoting the expression of Ras homolog enriched in brain (Rheb) in human breast adenocarcinoma cells.Oncotarget. 2016 Apr 26;7(17):24572-84. doi: 10.18632/oncotarget.8249.