combined immunodeficiency due to STK4 deficiency
Findings
No curated finding names combined immunodeficiency due to STK4 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).
Definition from the Mondo Disease Ontology (MONDO:0013934), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ImmunodeficiencyHPOHP:0002721
- 3 of 3 reported patients
- Patent foramen ovaleHPOHP:0001655
- 3 of 3 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 3 of 3 reported patients
- Recurrent mucocutaneous candidiasisHPOHP:0002728
- 3 of 3 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 3 of 3 reported patients
- VerrucaeHPOHP:0200043
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STK4HGNC:11408
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- MST1HGNC:7380
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: combined immunodeficiency due to STK4 deficiency
- Also called
- CID due to STK4 deficiencyMST1 deficiencySTK4 deficiencyT-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformationsTIIAC