Details of Disease

General Information of Disease (ID: DISPZ7R1)

• Disease Name: Immunodeficiency 67
• Synonyms: IRAK-4 deficiency; IRAK4D; Interleukin receptor-associated kinase deficiency; invasive pneumococcal disease, protection against; IPD1; IRAK4 deficiency; invasive pneumococcal disease, recurrent isolated, 1; immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency; invasive pneumococcal disease, recurrent isolated, type 1; immunodeficiency 67
• Definition: An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.
• Disease Hierarchy:
  DISIYKJL: Hereditary predisposition to infections
  DIS093I0: Immunodeficiency
  DISPZ7R1: Immunodeficiency 67
• Disease Identifiers:
  MONDO ID: MONDO_0011888
  MESH ID: C564352
  UMLS CUI: C1843256
  OMIM ID: 607676
  MedGen ID: 375137
  Orphanet ID: 70592

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IRAK4	TTILUKB	Strong	Autosomal recessive	[1]
IRAK4	TTILUKB	Strong	Genetic Variation	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IRAK4	OT9JTJWC	Strong	Autosomal recessive	[1]
SUMF2	OT37I8JL	Strong	Genetic Variation	[3]

References

• [1] Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med. 2007 Oct 1;204(10):2407-22. doi: 10.1084/jem.20070628. Epub 2007 Sep 24.
• [2] Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.Mol Immunol. 2014 Mar;58(1):66-76. doi: 10.1016/j.molimm.2013.11.008. Epub 2013 Dec 5.
• [3] Recurrent infection with genetically identical pneumococcal isolates in a patient with interleukin-1 receptor-associated kinase-4 deficiency.J Med Microbiol. 2007 Jun;56(Pt 6):863-865. doi: 10.1099/jmm.0.47046-0.