Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: TYK2 DEFICIENCY
HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
AR hyper-IgE syndrome due to TYK2 deficiency
HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
AR-HIES due to TYK2 deficiency
Number of Symptoms 7
OrphanetNr: 331226
OMIM Id: 611521
ICD-10: D82.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive hyper-IgE syndrome
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0003212) Increased IgE level 17088085 IBIS 13 / 7739
2
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
3
 (HPO:0002841) Recurrent fungal infections 17088085 IBIS 16 / 7739
4
 (HPO:0011274) Recurrent mycobacterial infections 17088085 IBIS 7 / 7739
5
 (HPO:0002721) Immunodeficiency 97 / 7739
6
 (HPO:0004429) Recurrent viral infections 17088085 IBIS 20 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Minegishi et al. (2006) described a 22-year-old Japanese male clinically diagnosed with autosomal recessive hyper-IgE syndrome (HIES) (see 243700), a primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE. The patient had a history ...
Molecular genetics OMIM In their patient with autosomal recessive hyper-IgE syndrome and atypical mycobacteriosis, Minegishi et al. (2006) identified a homozygous deletion of GCTT at nucleotide 550 in the TYK2 gene (176941.0001), resulting in a frameshift and premature termination of the ...