Details of Disease

General Information of Disease (ID: DIS9697Z)

Disease Name Pyogenic bacterial infections due to MyD88 deficiency
Synonyms pyogenic bacterial infections, recurrent, due to MyD88 deficiency; immunodeficiency 68; MYD88D; recurrent pyogenic bacterial infections due to MyD88 deficiency; MyD88 deficiency
Definition
Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.
Disease Hierarchy
DISIYKJL: Hereditary predisposition to infections
DIS9697Z: Pyogenic bacterial infections due to MyD88 deficiency
Disease Identifiers
MONDO ID
MONDO_0012839
MESH ID
C567379
UMLS CUI
C2677092
OMIM ID
612260
MedGen ID
383023
Orphanet ID
183713

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IRAK4 TTILUKB Strong Genetic Variation [1]
MYD88 TTB6Q2O Strong Autosomal recessive [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYD88 OTB4D6FL Strong Autosomal recessive [2]
SHARPIN OTU1J2KH Strong Biomarker [3]
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References

1 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.
2 Cutting edge: TLR2-deficient and MyD88-deficient mice are highly susceptible to Staphylococcus aureus infection. J Immunol. 2000 Nov 15;165(10):5392-6. doi: 10.4049/jimmunol.165.10.5392.
3 Innate immune adaptor MyD88 deficiency prevents skin inflammation in SHARPIN-deficient mice.Cell Death Differ. 2019 Mar;26(4):741-750. doi: 10.1038/s41418-018-0159-7. Epub 2018 Jul 23.