Research & Literature

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

Engelhardt KR, Gertz ME, Keles S, et al.

The Journal of allergy and clinical immunology 2015; (136(2)):402-12.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, et al.

Journal of clinical immunology 2016; (36(2)):117-22 doi:10.1007/s10875-016-0232-2.

Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India.

Madkaikar M, Aluri J, Gupta S

Indian journal of pediatrics 2016; (83(5)):455-62 doi:10.1007/s12098-016-2059-5.

Vaccination in Primary Immunodeficiency Disorders.

Sobh A, Bonilla FA

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1066-1075 doi:10.1016/j.jaip.2016.09.012.

Intravenous and subcutaneous immunoglobulin G replacement therapy.

Bonilla FA

Allergy and asthma proceedings 2016; (37(6)):426-431 doi:10.2500/aap.2016.37.3987.

Immunoglobulin replacement therapy in primary and secondary antibody deficiency: The correct clinical approach.

Pecoraro A, Crescenzi L, Granata F, et al.

International immunopharmacology 2017; (52()):136-142 doi:10.1016/j.intimp.2017.09.005.

New insights in the use of immunoglobulins for the management of immune deficiency (PID) patients.

Krivan G, Jolles S, Granados EL, et al.

American journal of clinical and experimental immunology 2017; (6(5)):76-83.

Adverse Effects of Immunoglobulin Therapy.

Guo Y, Tian X, Wang X, Xiao Z

Frontiers in immunology 2018; (9()):1299 doi:10.3389/fimmu.2018.01299.

Primary immunodeficiency.

McCusker C, Upton J, Warrington R

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018; (14(Suppl 2)):61 doi:10.1186/s13223-018-0290-5.

EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency.

Schipp C, Schlütermann D, Hönscheid A, et al.

Frontiers in immunology 2018; (9()):2400 doi:10.3389/fimmu.2018.02400.

Supporting caregivers during hematopoietic cell transplantation for children with primary immunodeficiency disorders.

Yoo J, Halley MC, Lown EA, et al.

The Journal of allergy and clinical immunology 2019; (143(6)):2271-2278 doi:10.1016/j.jaci.2018.10.017.

Dilemmas With Rotavirus Vaccine: The Neonate and Immunocompromised.

Chiu M, Bao C, Sadarangani M

The Pediatric infectious disease journal 2019; (38(6S Suppl 1)):S43-S46 doi:10.1097/INF.0000000000002322.

A case report of sinusoidal diffuse large B-cell lymphoma in a STK4 deficient patient.

Ashrafi F, Klein C, Poorpooneh M, et al.

Medicine 2020; (99(9)):e18601 doi:10.1097/MD.0000000000018601.

STK4 Deficiency Impairs Innate Immunity and Interferon Production Through Negative Regulation of TBK1-IRF3 Signaling.

Jørgensen SE, Al-Mousawi A, Assing K, et al.

Journal of clinical immunology 2021; (41(1)):109-124 doi:10.1007/s10875-020-00891-7.

Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the Literature.

Cagdas D, Halacli SO, Tan C, et al.

The journal of allergy and clinical immunology. In practice 2021; (9(10)):3752-3766.e4 doi:10.1016/j.jaip.2021.05.032.

Newborn screening for severe combined immunodeficiency-Coming to a region near you soon.

Elliman DAC, Gennery AR

Clinical and experimental immunology 2021; (205(3)):343-345 doi:10.1111/cei.13642.

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Guennoun A, Bougarn S, Khan T, et al.

Journal of clinical immunology 2021; (41(8)):1839-1852 doi:10.1007/s10875-021-01115-2.

STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature.

Saglam A, Cagdas D, Aydin B, et al.

Virchows Archiv : an international journal of pathology 2022; (480(2)):393-401 doi:10.1007/s00428-021-03147-w.

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J, Modell V, Johnson B, et al.

Frontiers in immunology 2022; (13()):906540 doi:10.3389/fimmu.2022.906540.

Hematopoietic stem cell transplantation in serine/threonine kinase 4 (STK4) deficiency: Report of two cases and literature review.

Uygun V, Keleş S, Daloğlu H, et al.

Pediatric transplantation 2023; (27(2)):e14439 doi:10.1111/petr.14439.

Hypogammaglobulinemia, late-onset neutropenia, and infections following rituximab.

Athni TS, Barmettler S

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2023; (130(6)):699-712 doi:10.1016/j.anai.2023.01.018.

STK4 deficiency and epidermodysplasia verruciformis-like lesions: A case report.

Gutierrez-Marin PA, Castano-Jaramillo LM, Velez-Tirado N, et al.

Pediatric dermatology 2024; (41(1)):96-99 doi:10.1111/pde.15400.

Too much of a good thing: a review of primary immune regulatory disorders.

Tsilifis C, Slatter MA, Gennery AR

Frontiers in immunology 2023; (14()):1279201 doi:10.3389/fimmu.2023.1279201.

Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study.

Ahmad Azahari AHS, Hakim Zada F, Ismail IH, et al.

Frontiers in immunology 2023; (14()):1308305 doi:10.3389/fimmu.2023.1308305.

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.

Al-Saud B, Alajlan H, Alruwaili H, et al.

Frontiers in immunology 2024; (15()):1329610 doi:10.3389/fimmu.2024.1329610.

Immunoglobulin replacement therapies in inborn errors of immunity: a review.

Sil A, Basu S, Joshi V, et al.

Frontiers in pediatrics 2024; (12()):1368755 doi:10.3389/fped.2024.1368755.

Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency.

Ying W, Long X, Vandergriff T, et al.

Journal of clinical immunology 2024; (44(8)):172 doi:10.1007/s10875-024-01780-z.

Immunodeficiency: Burden of Illness.

Hsueh JC, Van Hersh AT, Zhao W

Allergy and asthma proceedings 2024; (45(5)):294-298 doi:10.2500/aap.2024.45.240060.

Immunoglobulin therapy for immunodeficiency.

Wilson BE, Freeman CM

Allergy and asthma proceedings 2024; (45(5)):364-370 doi:10.2500/aap.2024.45.240053.

Immunoglobulin therapies for primary immunodeficiency diseases (part 2): considerations for dosing strategies.

Li Z, Mahmood I

Immunotherapy 2024; (16(13)):895-905 doi:10.1080/1750743X.2024.2382074.

Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency.

El Kettani A, Ouair H, Marnissi F, et al.

Viruses 2024; (16(9)) doi:10.3390/v16091415.

Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis.

Cunningham-Rundles C, Casanova JL, Boisson B

Hematology. American Society of Hematology. Education Program 2024; (2024(1)):137-142 doi:10.1182/hematology.2024000538.

Expert-Based, Institutional Approaches for Reducing the Diagnostic Odyssey of Patients With Inborn Errors of Immunity.

Rider NL, Bastarache L, Anderson JT, et al.

The journal of allergy and clinical immunology. In practice 2025; (13(6)):1317-1324 doi:10.1016/j.jaip.2025.03.040.

A novel mutation in the STK4 gene (Serine/threonine kinase 4) in a Chinese Blang child.

Liu Y, Lei Y, Li M, et al.

Immunology letters 2026; (280()):107182 doi:10.1016/j.imlet.2026.107182.

Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study.

Costagliola G, Consonni F, Castagnoli R, et al.

Frontiers in immunology 2026; (17()):1854044 doi:10.3389/fimmu.2026.1854044.

Serine/Threonine Kinase 4 Deficiency Caused by a Potential Novel c.248del, p.Pro83Leufs∗3 Mutation: A Case Report.

Ashayeri H, Eskandarzadeh S, Alavi S, et al.

Case reports in immunology 2026; (2026()):8573882 doi:10.1155/crii/8573882.

Pre-diagnosis emotions and experiences of parents of children with immunodeficiency disorders: A qualitative study.

Coşkun Şimşek D, Polat F, Bahçecioğlu Turan G, Kiliç M

Journal of pediatric nursing 2026; doi:10.1016/j.pedn.2026.09.029.

Work participation in inborn errors of immunity: The dual burden on patients and caregivers.

Pulvirenti F, Sgrulletti M, Radovic K, et al.

Journal of human immunity 2026; (2(6)) doi:10.70962/jhi.20260077.