Details of Disease

General Information of Disease (ID: DISYACRR)

Disease Name Combined immunodeficiency due to STK4 deficiency
Synonyms
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations; T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations; TIIAC; MST1 deficiency; CID due to STK4 deficiency; STK4 deficiency
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).
Disease Hierarchy
DISKR6QJ: Combined immunodeficiency
DISYACRR: Combined immunodeficiency due to STK4 deficiency
Disease Identifiers
MONDO ID
MONDO_0013934
UMLS CUI
C3553943
OMIM ID
614868
MedGen ID
766857
Orphanet ID
314689

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
STK4 TTCPLVN Limited Biomarker [1]
STK4 TTCPLVN Definitive Autosomal recessive [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MST1 OTOC4UNG Moderate Autosomal recessive [3]
FUNDC1 OTA6IVKQ Strong Biomarker [4]
STK4 OTBRYNNH Definitive Autosomal recessive [2]
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References

1 EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency.Front Immunol. 2018 Oct 16;9:2400. doi: 10.3389/fimmu.2018.02400. eCollection 2018.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4 Mst1 promotes cardiac ischemia-reperfusion injury by inhibiting the ERK-CREB pathway and repressing FUNDC1-mediated mitophagy.J Physiol Sci. 2019 Jan;69(1):113-127. doi: 10.1007/s12576-018-0627-3. Epub 2018 Jun 30.