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MHC class I deficiency 3(MHC1D3)

MedGen UID:
1858909
•Concept ID:
C5935618
•
Disease or Syndrome
Synonyms: MHC CLASS I DEFICIENCY 3; MHC1D3
 
Gene (location): TAPBP (6p21.32)
 
Monarch Initiative: MONDO:0971012
OMIM®: 620814

Definition

MHC class I deficiency-3 (MHC1D3) is an autosomal recessive immunologic disorder characterized by chronic glomerulonephritis and reduced cell surface expression of class I HLA antigens (summary by Yabe et al., 2002). For a discussion of genetic heterogeneity of MHC class I deficiency, see MHC1D1 (604571). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Stabilization of transgene expression by incorporation of E3 region genes into an adenoviral factor IX vector and by transient anti-CD4 treatment of the host.
Poller W, Schneider-Rasp S, Liebert U, Merklein F, Thalheimer P, Haack A, Schwaab R, Schmitt C, Brackmann HH
Gene Ther 1996 Jun;3(6):521-30. PMID: 8789802

Recent clinical studies

Etiology

Morphological Characteristics of Idiopathic Inflammatory Myopathies in Juvenile Patients.
Schänzer A, Rager L, Dahlhaus I, Dittmayer C, Preusse C, Della Marina A, Goebel HH, Hahn A, Stenzel W
Cells 2021 Dec 30;11(1) doi: 10.3390/cells11010109. PMID: 35011672Free PMC Article
Lynch syndrome-associated epithelial ovarian cancer and its immunological profile.
Rasmussen M, Lim K, Rambech E, Andersen MH, Svane IM, Andersen O, Jensen LH, Nilbert M, Therkildsen C
Gynecol Oncol 2021 Sep;162(3):686-693. Epub 2021 Jul 16 doi: 10.1016/j.ygyno.2021.07.001. PMID: 34275654
MHC class I and II deficiencies.
Hanna S, Etzioni A
J Allergy Clin Immunol 2014 Aug;134(2):269-75. Epub 2014 Jul 4 doi: 10.1016/j.jaci.2014.06.001. PMID: 25001848
The patterns of MHC association in aplastic and non-aplastic paroxysmal nocturnal hemoglobinuria.
Nowak J, Mika-Witkowska R, Mendek-Czajkowska E, Rogatko-Koroś M, Graczyk-Pol E, Pyl H, Klimczak A, Wójcik M, Prochorec-Sobieszek M, Maryniak R, Zupańska B
Arch Immunol Ther Exp (Warsz) 2011 Jun;59(3):231-8. Epub 2011 Mar 27 doi: 10.1007/s00005-011-0125-2. PMID: 21442308
Leucocyte cellular adhesion molecules.
Yong K, Khwaja A
Blood Rev 1990 Dec;4(4):211-25. doi: 10.1016/0268-960x(90)90001-9. PMID: 1706206

Diagnosis

Morphological Characteristics of Idiopathic Inflammatory Myopathies in Juvenile Patients.
Schänzer A, Rager L, Dahlhaus I, Dittmayer C, Preusse C, Della Marina A, Goebel HH, Hahn A, Stenzel W
Cells 2021 Dec 30;11(1) doi: 10.3390/cells11010109. PMID: 35011672Free PMC Article
NLRP3 Deficiency in Hepatocellular Carcinoma Enhances Surveillance of NK-92 through a Modulation of MICA/B.
Lee HH, Kim D, Jung J, Kang H, Cho H
Int J Mol Sci 2021 Aug 27;22(17) doi: 10.3390/ijms22179285. PMID: 34502191Free PMC Article
MHC class I loss in endometrial carcinoma: a potential resistance mechanism to immune checkpoint inhibition.
Friedman LA, Bullock TN, Sloan EA, Ring KL, Mills AM
Mod Pathol 2021 Mar;34(3):627-636. Epub 2020 Oct 3 doi: 10.1038/s41379-020-00682-w. PMID: 33011747
MHC class I and II deficiencies.
Hanna S, Etzioni A
J Allergy Clin Immunol 2014 Aug;134(2):269-75. Epub 2014 Jul 4 doi: 10.1016/j.jaci.2014.06.001. PMID: 25001848
MHC antigens on human tumors.
Ruiz-Cabello F, Klein E, Garrido F
Immunol Lett 1991 Aug;29(3):181-9. doi: 10.1016/0165-2478(91)90168-a. PMID: 1769705

Therapy

MHC class I and II-deficient humanized mice are suitable tools to test the long-term antitumor efficacy of immune checkpoint inhibitors and T-cell engagers.
Eguren-Santamaria I, Fernández de Piérola E, Camps G, Martín-Muñoz P, Campos M, Cuculescu D, Aguilera-Buenosvinos I, Rodríguez López I, Salido-Vallejo R, Alexandru R, De Andrea CE, Álvarez-Gigli L, Berraondo P, Melero I, Sanmamed MF
J Immunother Cancer 2024 Sep 6;12(9) doi: 10.1136/jitc-2023-008516. PMID: 39244214Free PMC Article
Facts and Hopes on Cancer Immunotherapy for Small Cell Lung Cancer.
Zugazagoitia J, Osma H, Baena J, Ucero AC, Paz-Ares L
Clin Cancer Res 2024 Jul 15;30(14):2872-2883. doi: 10.1158/1078-0432.CCR-23-1159. PMID: 38630789
γδ T cells are effectors of immunotherapy in cancers with HLA class I defects.
de Vries NL, van de Haar J, Veninga V, Chalabi M, Ijsselsteijn ME, van der Ploeg M, van den Bulk J, Ruano D, van den Berg JG, Haanen JB, Zeverijn LJ, Geurts BS, de Wit GF, Battaglia TW, Gelderblom H, Verheul HMW, Schumacher TN, Wessels LFA, Koning F, de Miranda NFCC, Voest EE
Nature 2023 Jan;613(7945):743-750. Epub 2023 Jan 11 doi: 10.1038/s41586-022-05593-1. PMID: 36631610Free PMC Article
Cytosolic Processing Governs TAP-Independent Presentation of a Critical Melanoma Antigen.
Vigneron N, Ferrari V, Van den Eynde BJ, Cresswell P, Leonhardt RM
J Immunol 2018 Oct 1;201(7):1875-1888. Epub 2018 Aug 22 doi: 10.4049/jimmunol.1701479. PMID: 30135181Free PMC Article
Lipolysis is altered in MHC class I zinc-alpha(2)-glycoprotein deficient mice.
Rolli V, Radosavljevic M, Astier V, Macquin C, Castan-Laurell I, Visentin V, Guigné C, Carpéné C, Valet P, Gilfillan S, Bahram S
FEBS Lett 2007 Feb 6;581(3):394-400. Epub 2007 Jan 10 doi: 10.1016/j.febslet.2006.12.047. PMID: 17234189

Prognosis

NLRP3 Deficiency in Hepatocellular Carcinoma Enhances Surveillance of NK-92 through a Modulation of MICA/B.
Lee HH, Kim D, Jung J, Kang H, Cho H
Int J Mol Sci 2021 Aug 27;22(17) doi: 10.3390/ijms22179285. PMID: 34502191Free PMC Article
MHC class I loss in endometrial carcinoma: a potential resistance mechanism to immune checkpoint inhibition.
Friedman LA, Bullock TN, Sloan EA, Ring KL, Mills AM
Mod Pathol 2021 Mar;34(3):627-636. Epub 2020 Oct 3 doi: 10.1038/s41379-020-00682-w. PMID: 33011747
Loss of HLA class I and mismatch repair protein expression in sporadic endometrioid endometrial carcinomas.
de Jong RA, Boerma A, Boezen HM, Mourits MJ, Hollema H, Nijman HW
Int J Cancer 2012 Oct 15;131(8):1828-36. Epub 2012 Mar 9 doi: 10.1002/ijc.27449. PMID: 22287095
MHC class I antigens, immune surveillance, and tumor immune escape.
Garcia-Lora A, Algarra I, Garrido F
J Cell Physiol 2003 Jun;195(3):346-55. doi: 10.1002/jcp.10290. PMID: 12704644
MHC antigens on human tumors.
Ruiz-Cabello F, Klein E, Garrido F
Immunol Lett 1991 Aug;29(3):181-9. doi: 10.1016/0165-2478(91)90168-a. PMID: 1769705

Clinical prediction guides

MHC class I and II-deficient humanized mice are suitable tools to test the long-term antitumor efficacy of immune checkpoint inhibitors and T-cell engagers.
Eguren-Santamaria I, Fernández de Piérola E, Camps G, Martín-Muñoz P, Campos M, Cuculescu D, Aguilera-Buenosvinos I, Rodríguez López I, Salido-Vallejo R, Alexandru R, De Andrea CE, Álvarez-Gigli L, Berraondo P, Melero I, Sanmamed MF
J Immunother Cancer 2024 Sep 6;12(9) doi: 10.1136/jitc-2023-008516. PMID: 39244214Free PMC Article
γδ T cells are effectors of immunotherapy in cancers with HLA class I defects.
de Vries NL, van de Haar J, Veninga V, Chalabi M, Ijsselsteijn ME, van der Ploeg M, van den Bulk J, Ruano D, van den Berg JG, Haanen JB, Zeverijn LJ, Geurts BS, de Wit GF, Battaglia TW, Gelderblom H, Verheul HMW, Schumacher TN, Wessels LFA, Koning F, de Miranda NFCC, Voest EE
Nature 2023 Jan;613(7945):743-750. Epub 2023 Jan 11 doi: 10.1038/s41586-022-05593-1. PMID: 36631610Free PMC Article
MHC class I loss in endometrial carcinoma: a potential resistance mechanism to immune checkpoint inhibition.
Friedman LA, Bullock TN, Sloan EA, Ring KL, Mills AM
Mod Pathol 2021 Mar;34(3):627-636. Epub 2020 Oct 3 doi: 10.1038/s41379-020-00682-w. PMID: 33011747
Lack of acute xenogeneic graft- versus-host disease, but retention of T-cell function following engraftment of human peripheral blood mononuclear cells in NSG mice deficient in MHC class I and II expression.
Brehm MA, Kenney LL, Wiles MV, Low BE, Tisch RM, Burzenski L, Mueller C, Greiner DL, Shultz LD
FASEB J 2019 Mar;33(3):3137-3151. Epub 2018 Nov 1 doi: 10.1096/fj.201800636R. PMID: 30383447Free PMC Article
MHC antigens on human tumors.
Ruiz-Cabello F, Klein E, Garrido F
Immunol Lett 1991 Aug;29(3):181-9. doi: 10.1016/0165-2478(91)90168-a. PMID: 1769705

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