Combined immunodeficiency due to STK4 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: STK4 DEFICIENCY
MST1 DEFICIENCY
TIIAC
CID due to STK4 deficiency
Number of Symptoms 9
OrphanetNr: 314689
OMIM Id: 614868
ICD-10: D81.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0200043) Verrucae 11 / 7739
2
 (HPO:0001631) Atria septal defect 274 / 7739
3
 (HPO:0001888) Lymphopenia 43 / 7739
4
 (HPO:0001875) Neutropenia 83 / 7739
5
 (HPO:0002841) Recurrent fungal infections 16 / 7739
6
 (HPO:0002721) Immunodeficiency 97 / 7739
7
 (HPO:0004429) Recurrent viral infections 20 / 7739
8
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) STK4 deficiency results in a primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect (Abdollahpour et al., ...
Clinical Description OMIM Abdollahpour et al. (2012) reported 3 patients, a brother and sister and their niece, from a consanguineous Iranian family who presented with a primary immunodeficiency resulting in bacterial and viral infections, mucocutaneous candidiasis, cutaneous warts, and recurrent skin ...
Molecular genetics OMIM In the 3 members of the consanguineous Iranian kindred with a primary T-cell immunodeficiency syndrome that they reported, Abdollahpour et al. (2012) identified a homozygous premature termination mutation in the STK4 gene (W250X; 604965.0003). Parents and healthy sibs ...