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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 900 | |
Name: | T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations | |
Associated with: | 1 target |
Synonyms |
Combined immunodeficiency due to STK4 deficiency |
Database Links |
OMIM:
614868 Orphanet: ORPHA314689 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖serine/threonine kinase 4 | |
Role: | Several STK4 mutations have been characterised in patients of different ethnic origins, with this autosomal recessive combined immunodeficiency. |
References: | 1-7 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
1. Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D et al.. (2012) The phenotype of human STK4 deficiency. Blood, 119 (15): 3450-7. DOI: 10.1182/blood-2011-09-378158 [PMID:22294732]
2. Crequer A, Picard C, Patin E, D'Amico A, Abhyankar A, Munzer M, Debré M, Zhang SY, de Saint-Basile G, Fischer A et al.. (2012) Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS ONE, 7 (8): e44010. [PMID:22952854]
3. Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D et al.. (2016) Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency. J Clin Immunol, 36 (2): 117-22. [PMID:26801501]
4. Halacli SO, Ayvaz DC, Sun-Tan C, Erman B, Uz E, Yilmaz DY, Ozgul K, Tezcan İ, Sanal O. (2015) STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation. Clin Immunol, 161 (2): 316-23. [PMID:26117625]
5. Nehme NT, Schmid JP, Debeurme F, André-Schmutz I, Lim A, Nitschke P, Rieux-Laucat F, Lutz P, Picard C, Mahlaoui N et al.. (2012) MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood, 119 (15): 3458-68. DOI: 10.1182/blood-2011-09-378364 [PMID:22174160]
6. Sharafian S, Ziaee V, Shahrooei M, Ahadi M, Parvaneh N. (2019) A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis. J Clin Immunol, 39 (1): 11-14. [PMID:30612220]
7. Sherkat R, Sabri MR, Dehghan B, Bigdelian H, Reisi N, Afsharmoghadam N, Rahimi H, Rahmanian N, Klein C. (2017) EBV lymphoproliferative-associated disease and primary cardiac T-cell lymphoma in a STK4 deficient patient: A case report. Medicine (Baltimore), 96 (48): e8852. [PMID:29310365]