Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: IRF8 DEFICIENCY, AUTOSOMAL DOMINANT
Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
MSMD due to partial IRF8 deficiency
MSMD due to partial interferon regulatory factor 8 deficiency
Number of Symptoms 3
OrphanetNr: 319600
OMIM Id: 614893
ICD-10: D84.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
2
 (HPO:0002716) Lymphadenopathy Very frequent [Orphanet] 129 / 7739
3
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant IRF8 deficiency causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340) dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011).
Clinical Description OMIM Hambleton et al. (2011) reported 2 unrelated individuals of Italian descent living in Brazil and Chile who had histories of multiple episodes of disseminated, but curable, BCG disease. The patients were otherwise healthy, with no other unusual infections. ...
Molecular genetics OMIM In the 2 unrelated individuals they reported with BCG disease, who lacked known mutations associated with susceptibility to mycobacterial disease, Hambleton et al. (2011) identified a de novo thr80-to-ala (T80A; 601565.0002) mutation in the IRF8 gene. The T80A ...