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pyogenic bacterial infections due to MyD88 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description Patients suffer from autosomal recessive, life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease, and die between 1 and 11 months of age. Surviving patients are otherwise healthy, with normal resistance to other microbes, and their clinical status improved with age.
Mondo Term and Equivalent IDs
MONDO:0012839:  pyogenic bacterial infections due to MyD88 deficiency
GARD:0012638: 
MESH:C567379: 
Orphanet:183713: 
UMLS:C2677092: