de Jong SJ, Imahorn E, Itin P, Uitto J, Orth G, Jouanguy E, et al. Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses. Front Microbiol. 2018;9:1222.

Gewirtzman A, Bartlett B, Tyring S. Epidermodysplasia verruciformis and human papilloma virus. Curr Opin Infect Dis. 2008;21(2):141-6

Article  PubMed  PubMed Central  Google Scholar 

Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet. 2002;32(4):579–81.

Article  CAS  PubMed  Google Scholar 

de Jong SJ, Crequer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, et al. The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to beta-papillomaviruses. J Exp Med. 2018;215(9):2289–310.

Article  PubMed  PubMed Central  Google Scholar 

Gubinelli E, Posteraro P, Cocuroccia B, Girolomoni G. Epidermodysplasia verruciformis with multiple mucosal carcinomas treated with pegylated interferon alfa and acitretin. J Dermatolog Treat. 2003;14(3):184–8.

Article  CAS  PubMed  Google Scholar 

Lutzner MA, Blanchet-Bardon C, Orth G. Clinical observations, virologic studies, and treatment trials in patients with epidermodysplasia verruciformis, a disease induced by specific human papillomaviruses. J Invest Dermatol. 1984;83(1 Suppl):s18–25.

Article  Google Scholar 

Partridge ME, Pariser RJ. Ocular and cutaneous squamous cell carcinoma in an African American man with epidermodysplasia verruciformis resulting in blindness and death. J Am Acad Dermatol. 2003;49(5 Suppl):S262–4.

Article  PubMed  Google Scholar 

El Kettani A, Ailal F, El Bakkouri J, Zerouali K, Beziat V, Jouanguy E et al. HPV-Related skin phenotypes in patients with inborn errors of immunity. Pathogens. 2022;11(8).

Nehme NT, Schmid JP, Debeurme F, Andre-Schmutz I, Lim A, Nitschke P, et al. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood. 2012;119(15):3458–68.

Article  CAS  PubMed  Google Scholar 

Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schaffer AA, et al. The phenotype of human STK4 deficiency. Blood. 2012;119(15):3450–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Best Practices Workflows. 2024 https://gatk.broadinstitute.org/hc/en-us/sections/360007226651-Best-Practices-Workflows

Casanova JL, Jouanguy E. Gerard Orth: from viral to human genes underlying warts. J Clin Immunol. 2024;44(5):106.

Article  PubMed  PubMed Central  Google Scholar 

Ogishi M, Yang R, Rodriguez R, Golec DP, Martin E, Philippot Q et al. Inherited human ITK deficiency impairs IFN-gamma immunity and underlies tuberculosis. J Exp Med. 2023;220(1).

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

Article  PubMed  PubMed Central  Google Scholar 

Gutierrez-Marin PA, Castano-Jaramillo LM, Velez-Tirado N, Villamil-Osorio M, Patino E, Reina MF, et al. STK4 deficiency and epidermodysplasia verruciformis-like lesions: a case report. Pediatr Dermatol. 2024;41(1):96–9.

Article  PubMed  Google Scholar 

Al-Saud B, Alajlan H, Alruwaili H, Almoaibed L, Al-Mazrou A, Ghebeh H, et al. A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report. Front Immunol. 2024;15:1329610.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Uygun V, Keles S, Daloglu H, Ozturkmen S, Yalcin K, Karasu G, et al. Hematopoietic stem cell transplantation in serine/threonine kinase 4 (STK4) deficiency: report of two cases and literature review. Pediatr Transpl. 2023;27(2):e14439.

Article  Google Scholar 

Jorgensen SE, Al-Mousawi A, Assing K, Hartling U, Grosen D, Fisker N, et al. STK4 Deficiency impairs innate immunity and Interferon Production through negative regulation of TBK1-IRF3 signaling. J Clin Immunol. 2021;41(1):109–24.

Article  PubMed  Google Scholar 

Guennoun A, Bougarn S, Khan T, Mackeh R, Rahman M, Al-Ali F, et al. A novel STK4 mutation impairs T cell immunity through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis genes. J Clin Immunol. 2021;41(8):1839–52.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cagdas D, Halacli SO, Tan C, Esenboga S, Karaatmaca B, Cetinkaya PG, et al. Diversity in Serine/Threonine protein Kinase-4 Deficiency and Review of the literature. J Allergy Clin Immunol Pract. 2021;9(10):3752–66. e4.

Article  CAS  PubMed  Google Scholar 

Radwan N, El-Owaidy R, El-Sayed ZA, Abdel-Baky A, El-Haddad A, Rashad H, et al. A Case of STK4 Deficiency with complications evoking mycobacterial infection. J Clin Immunol. 2020;40(4):665–9.

Article  PubMed  Google Scholar 

Sharafian S, Ziaee V, Shahrooei M, Ahadi M, Parvaneh N. A novel STK4 mutation presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis. J Clin Immunol. 2019;39(1):11–4.

Article  CAS  PubMed  Google Scholar 

Al-Saud B, Alajlan H, Sabar H, Anwar S, Alruwaili H, Al-Hussain T, et al. STK4 Deficiency in a patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman’s-Like Disease. J Clin Immunol. 2019;39(8):823–6.

Article  PubMed  Google Scholar 

Schipp C, Schlutermann D, Honscheid A, Nabhani S, Holl J, Oommen PT, et al. EBV Negative Lymphoma and autoimmune lymphoproliferative syndrome like phenotype extend the clinical spectrum of primary immunodeficiency caused by STK4 Deficiency. Front Immunol. 2018;9:2400.

Article  PubMed  PubMed Central  Google Scholar 

Lum SH, Bonney D, Cheesman E, Wrignt NB, Hughes S, Wynn R. Successful curative therapy with Rituximab and Allogeneic Haematopoietic Stem Cell Transplantation for MALT Lymphoma Associated with STK4-Mutated CD4 + Lymphocytopenia. Pediatr Blood Cancer. 2016;63(9):1657–9.

Article  PubMed  Google Scholar 

Dang TS, Willet JD, Griffin HR, Morgan NV, O’Boyle G, Arkwright PD, et al. Defective leukocyte adhesion and Chemotaxis contributes to combined immunodeficiency in humans with autosomal recessive MST1 Deficiency. J Clin Immunol. 2016;36(2):117–22.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Halacli SO, Ayvaz DC, Sun-Tan C, Erman B, Uz E, Yilmaz DY, et al. STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: a novel mutation. Clin Immunol. 2015;161(2):316–23.

Article  CAS  PubMed  Google Scholar 

Crequer A, Picard C, Patin E, D’Amico A, Abhyankar A, Munzer M, et al. Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS ONE. 2012;7(8):e44010.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tometten I, Felgentreff K, Honig M, Hauck F, Albert MH, Niehues T, et al. Increased proportions of gammadelta T lymphocytes in atypical SCID associate with disease manifestations. Clin Immunol. 2019;201:30–4.

Article  CAS  PubMed  Google Scholar 

Fichtner AS, Ravens S, Prinz I. Human gammadelta TCR repertoires in Health and Disease. Cells. 2020;9(4).

Davey MS, Willcox CR, Hunter S, Kasatskaya SA, Remmerswaal EBM, Salim M, et al. The human Vdelta2(+) T-cell compartment comprises distinct innate-like Vgamma9(+) and adaptive Vgamma9(-) subsets. Nat Commun. 2018;9(1):1760.

Article  PubMed  PubMed Central  Google Scholar 

Dieli F, Poccia F, Lipp M, Sireci G, Caccamo N, Di Sano C, et al. Differentiation of effector/memory Vdelta2 T cells and migratory routes in lymph nodes or inflammatory sites. J Exp Med. 2003;198(3):391–7.

Caccamo N, Meraviglia S, Ferlazzo V, Angelini D, Borsellino G, Poccia F, et al. Differential requirements for antigen or homeostatic cytokines for proliferation and differentiation of human Vgamma9Vdelta2 naive, memory and effector T cell subsets. Eur J Immunol. 2005;35(6):1764–72.

Mayor PC, Eng KH, Singel KL, Abrams SI, Odunsi K, Moysich KB, et al. Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry. J Allergy Clin Immunol. 2018;141(3):1028–35.

Article  PubMed  Google Scholar 

Ye X, Maglione PJ, Wehr C, Li X, Wang Y, Abolhassani H, et al. Genomic characterization of lymphomas in patients with inborn errors of immunity. Blood Adv. 2022;6(18):5403–14.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sherkat R, Sabri MR, Dehghan B, Bigdelian H, Reisi N, Afsharmoghadam N, et al. EBV lymphoproliferative-associated disease and primary cardiac T-cell lymphoma in a STK4 deficient patient: a case report. Med (Baltim). 2017;96(48):e8852.

Article