MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614894
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001508) Failure to thrive 454 / 7739
2
(HPO:0002719) Recurrent infections 107 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(HPO:0003593) Infantile onset 249 / 7739
5
(OMIM) Lack of circulating dendritic cells 1 / 7739
6
(OMIM) Poor production of certain cytokines (IL-12, gamma-interferon, IL-10, IL-6, TNF-alpha) after stimulation 1 / 7739
7
(MedDRA:10030963) Oral candidiasis 4 / 7739
8
(OMIM) Primary immunodeficiency 3 / 7739
9
(OMIM) Lack of circulating monocytes 1 / 7739
10
(OMIM) Myeloid proliferation 1 / 7739
11
(OMIM) Variable deficit of tissue macrophages 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive IRF8 deficiency results in a life-threatening pediatric syndrome characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, including disseminated BCG infection and oral candidiasis (Hambleton et al., 2011).
Clinical Description OMIM Hambleton et al. (2011) reported an Irish female infant of nonconsanguineous parents who presented at 10 weeks old with failure to thrive, oral candidiasis, and early-onset disseminated BCG disease. The authors noted florid myeloproliferation. The infant had a ...
Molecular genetics OMIM In the Irish infant they reported with autosomal recessive monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, Hambleton et al. (2011) identified a homozygous lys108-to-glu (K108E; 601565.0001) mutation in the DNA-binding domain of IRF8. ...