Research & Literature

β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.

Ardeniz Ö, Unger S, Onay H, et al.

The Journal of allergy and clinical immunology 2015; (136(2)):392-401.

Hydrophobic Interactions Are Key To Drive the Association of Tapasin with Peptide Transporter Subunit TAP2.

Rufer E, Kägebein D, Leonhardt RM, Knittler MR

Journal of immunology (Baltimore, Md. : 1950) 2015; (195(11)):5482-94 doi:10.4049/jimmunol.1500246.

A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature.

Hanalioglu D, Ayvaz DC, Ozgur TT, et al.

Clinical immunology (Orlando, Fla.) 2017; (178()):74-78 doi:10.1016/j.clim.2017.01.011.

A review of late complications of allogeneic hematopoietic stem cell transplantations.

Atilla E, Atilla PA, Toprak SK, Demirer T

Clinical transplantation 2017; (31(10)) doi:10.1111/ctr.13062.

Structure of the human MHC-I peptide-loading complex.

Blees A, Januliene D, Hofmann T, et al.

Nature 2017; (551(7681)):525-528 doi:10.1038/nature24627.

Computational characterization of the peptidome in transporter associated with antigen processing (TAP)-deficient cells.

Martín-Galiano AJ, López D

PloS one 2019; (14(1)):e0210583 doi:10.1371/journal.pone.0210583.

Incidence, Risk Factors, and Outcomes of Patients Who Develop Mucosal Barrier Injury-Laboratory Confirmed Bloodstream Infections in the First 100 Days After Allogeneic Hematopoietic Stem Cell Transplant.

Dandoy CE, Kim S, Chen M, et al.

JAMA network open 2020; (3(1)):e1918668 doi:10.1001/jamanetworkopen.2019.18668.

Stem cell transplantation as treatment for major histocompatibility class I deficiency.

Tsilifis C, Moreira D, Marques L, et al.

Clinical immunology (Orlando, Fla.) 2021; (229()):108801 doi:10.1016/j.clim.2021.108801.

Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.

Darazam IA, Hakamifard A, Momenilandi M, et al.

Journal of clinical immunology 2023; (43(1)):217-228 doi:10.1007/s10875-022-01374-7.

Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies.

Elsayed A, von Hardenberg S, Atschekzei F, et al.

The Journal of allergy and clinical immunology 2024; (154(4)):1069-1075 doi:10.1016/j.jaci.2024.06.003.

A Rare Case of Bare Lymphocyte Syndrome Presenting As Chronic Type 2 Respiratory Failure.

Bhatnagar A, Velagala VR, Vagha JD, et al.

Cureus 2024; (16(7)):e64951 doi:10.7759/cureus.64951.

Lessons from the American College of Allergy, Asthma and Immunology inborn errors of immunity survey: Advancing diagnostic and therapeutic strategies for the practicing allergist-immunologist.

Ariue B, Patel NC, Bellanti JA

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2026; (136(2)):221-229 doi:10.1016/j.anai.2025.09.026.

Clinical and immunological spectrum of MHC class I deficiency: insights from a long-term cohort with two novel mutations.

Haskologlu S, Ikinciogullari A, Islamoglu C, et al.

Frontiers in immunology 2025; (16()):1675097 doi:10.3389/fimmu.2025.1675097.

TAP-I Deficiency Presenting With Chronic Granulomatous Rubella Virus-Driven Cutaneous Ulceration: A Case Report and Scoping Literature Review.

Ponsford MJ, Carne EM, Bramhall K, et al.

Journal of clinical immunology 2025; (46(1)):1 doi:10.1007/s10875-025-01919-6.

First Case of TAP1 Deficiency with EBV B-Cell Lymphoma Treated with Cellular Immunotherapy.

Bermejo-Olivera FJ, Velasco-Sidro M, Íñiguez-García R, et al.

Journal of clinical immunology 2026; (46(1)).

Inborn errors of immunity affecting the MHC class I pathway for antigen presentation.

Gadola SD, Ardeniz Ö, Cuapio A, et al.

Journal of human immunity 2025; (1(2)):e20250029 doi:10.70962/jhi.20250029.