IMMUNODEFICIENCY 31C

General Information (adopted from Orphanet):

Synonyms, Signs: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
CANDF7
Number of Symptoms 15
OrphanetNr:
OMIM Id: 614162
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000821) Hypothyroidism rare [HPO:skoehler] 141 / 7739
2
(HPO:0000819) Diabetes mellitus rare [HPO:skoehler] 131 / 7739
3
(HPO:0000823) Delayed puberty rare [HPO:skoehler] 65 / 7739
4
(HPO:0000938) Osteopenia rare [HPO:skoehler] 138 / 7739
5
(HPO:0002014) Diarrhea rare [HPO:skoehler] 225 / 7739
6
(HPO:0011473) Villous atrophy rare [HPO:skoehler] 14 / 7739
7
(HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
8
(HPO:0002728) Chronic mucocutaneous candidiasis 14 / 7739
9
(HPO:0000964) Eczema rare [HPO:skoehler] 81 / 7739
10
(HPO:0001888) Lymphopenia 43 / 7739
11
(HPO:0001890) Autoimmune hemolytic anemia rare [HPO:skoehler] 17 / 7739
12
(HPO:0002205) Recurrent respiratory infections 254 / 7739
13
(HPO:0002721) Immunodeficiency 97 / 7739
14
(HPO:0002958) Immune dysregulation 5 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van de Veerdonk et al. (2011) evaluated 14 patients from 2 Dutch and 3 British families with autosomal dominant chronic mucocutaneous candidiasis. Mononuclear cells from the affected patients were characterized by poor production of IFNG (147570), IL17 (IL17A; ...
Molecular genetics OMIM In 2 Dutch and 3 British families with autosomal dominant chronic mucocutaneous candidiasis, van de Veerdonk et al. (2011) identified 2 heterozygous mutations in exon 10 of the STAT1 gene. Both mutations, arg274 to trp (R274W; 600555.0008) and ...