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T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations

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

Targets

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

Ligands

No ligand related data available for T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations

References

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1. Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schaffer AA et al.. (2012) The phenotype of human STK4 deficiency. Blood, 119 (15): 3450–7. DOI: 10.1182/blood-2011-09-378158

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, Andre-Schmutz I, Lim A, Nitschke P, 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

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]