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Abnormal MHC II surface expression

MedGen UID:
1624343
•Concept ID:
C4531025
•
Cell or Molecular Dysfunction
HPO: HP:0031389

Definition

A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal MHC II surface expression

Professional guidelines

PubMed

Malignant transformation of human melanocytes: induction of a complete melanoma phenotype and genotype.
Albino AP, Sozzi G, Nanus DM, Jhanwar SC, Houghton AN
Oncogene 1992 Nov;7(11):2315-21. PMID: 1437153

Recent clinical studies

Etiology

High frequency of homozygosity of the HLA region in melanoma cell lines reveals a pattern compatible with extensive loss of heterozygosity.
Rodriguez T, Méndez R, Roberts CH, Ruiz-Cabello F, Dodi IA, López Nevot MA, Paco L, Maleno I, Marsh SG, Pawelec G, Garrido F
Cancer Immunol Immunother 2005 Feb;54(2):141-8. Epub 2004 Oct 1 doi: 10.1007/s00262-004-0561-5. PMID: 15592718
Major histocompatibility complex class II (MHC II) expression in the normal and pathological human foetal spinal cord.
Wierzba-Bobrowicz T, Kosno-Kruszewska E, Gwiazda E, Lechowicz W, Schmidt-Sidor B
Folia Neuropathol 2001;39(2):49-56. PMID: 11680635
Antigen presentation by common variable immunodeficiency (CVID) B cells and monocytes is unimpaired.
Thon V, Eggenbauer H, Wolf HM, Fischer MB, Litzman J, Lokaj J, Eibl MM
Clin Exp Immunol 1997 Apr;108(1):1-8. doi: 10.1046/j.1365-2249.1997.d01-989.x. PMID: 9097903Free PMC Article
Cell-mediated hepatic injury in alcoholic liver disease. Veterans Affairs Cooperative Study Group 275.
Chedid A, Mendenhall CL, Moritz TE, French SW, Chen TS, Morgan TR, Roselle GA, Nemchausky BA, Tamburro CH, Schiff ER
Gastroenterology 1993 Jul;105(1):254-66. doi: 10.1016/0016-5085(93)90034-a. PMID: 8514042
Alport's syndrome--an autoaggressive immunopathy?
Seyfert UT
Child Nephrol Urol 1988-1989;9(3):127-9. PMID: 3150944

Diagnosis

The MHC Class II Antigen-Processing and Presentation Pathway Is Dysregulated in Type 1 Diabetes.
Gilles A, Hu L, Virdis F, Sant'Angelo DB, Dimitrova N, Hedrick JA, Denzin LK
J Immunol 2023 Dec 1;211(11):1630-1642. doi: 10.4049/jimmunol.2300213. PMID: 37811896Free PMC Article
Loss of interferon-gamma inducibility of the MHC class II antigen processing pathway in head and neck cancer: evidence for post-transcriptional as well as epigenetic regulation.
Meissner M, Whiteside TL, van Kuik-Romein P, Valesky EM, van den Elsen PJ, Kaufmann R, Seliger B
Br J Dermatol 2008 May;158(5):930-40. Epub 2008 Feb 16 doi: 10.1111/j.1365-2133.2008.08465.x. PMID: 18284388
Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies.
Soubrouillard C, Pellissier JF, Lepidi H, Mancini J, Rougon G, Figarella-Branger D
J Neurol Sci 1995 Nov;133(1-2):155-63. doi: 10.1016/0022-510x(95)00182-2. PMID: 8583219
Abnormal expression of the E2 component of the pyruvate dehydrogenase complex on the luminal surface of biliary epithelium occurs before major histocompatibility complex class II and BB1/B7 expression.
Tsuneyama K, Van de Water J, Leung PS, Cha S, Nakanuma Y, Kaplan M, De Lellis R, Coppel R, Ansari A, Gershwin ME
Hepatology 1995 Apr;21(4):1031-7. PMID: 7535733
Biclonal B-cell lymphoma.
Sklar J, Cleary ML, Thielemans K, Gralow J, Warnke R, Levy R
N Engl J Med 1984 Jul 5;311(1):20-7. doi: 10.1056/NEJM198407053110104. PMID: 6427612

Therapy

A Case of Probable MHC Class II Deficiency with Disseminated BCGitis.
Alyasin S, Abolnezhadian F, Khoshkhui M
Iran J Immunol 2015 Sep;12(3):219-25. PMID: 26412640
Leukocyte perturbation associated with Fabry disease.
Rozenfeld P, Agriello E, De Francesco N, Martinez P, Fossati C
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S67-77. Epub 2009 Mar 7 doi: 10.1007/s10545-009-1060-9. PMID: 19259782
Tap-1 and Tap-2 gene therapy selectively restores conformationally dependent HLA Class I expression in type I diabetic cells.
Wang F, Li X, Annis B, Faustman DL
Hum Gene Ther 1995 Aug;6(8):1005-17. doi: 10.1089/hum.1995.6.8-1005. PMID: 7578413
Immunopathology of American cutaneous leishmaniasis. Modulation of MHC class II gene products by keratinocytes before and after glucantime therapy.
Pirmez C, Oliveira-Neto MP, Grimaldi Júnior G, Savino W
Mem Inst Oswaldo Cruz 1990 Apr-Jun;85(2):203-9. doi: 10.1590/s0074-02761990000200011. PMID: 2128362

Prognosis

Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies.
Soubrouillard C, Pellissier JF, Lepidi H, Mancini J, Rougon G, Figarella-Branger D
J Neurol Sci 1995 Nov;133(1-2):155-63. doi: 10.1016/0022-510x(95)00182-2. PMID: 8583219
Induction of major histocompatibility complex antigens within the myocardium of patients with active myocarditis: a nonhistologic marker of myocarditis.
Herskowitz A, Ahmed-Ansari A, Neumann DA, Beschorner WE, Rose NR, Soule LM, Burek CL, Sell KW, Baughman KL
J Am Coll Cardiol 1990 Mar 1;15(3):624-32. doi: 10.1016/0735-1097(90)90637-5. PMID: 2406319
Acute mixed lineage leukemia: clinicopathologic correlations and prognostic significance.
Mirro J, Zipf TF, Pui CH, Kitchingman G, Williams D, Melvin S, Murphy SB, Stass S
Blood 1985 Nov;66(5):1115-23. PMID: 3931724

Clinical prediction guides

Immunosuppressive properties of mesenchymal stem cells: advances and applications.
De Miguel MP, Fuentes-Julián S, Blázquez-Martínez A, Pascual CY, Aller MA, Arias J, Arnalich-Montiel F
Curr Mol Med 2012 Jun;12(5):574-91. doi: 10.2174/156652412800619950. PMID: 22515979
Activation of MHC class I, II, and CD40 gene expression by histone deacetylase inhibitors.
Magner WJ, Kazim AL, Stewart C, Romano MA, Catalano G, Grande C, Keiser N, Santaniello F, Tomasi TB
J Immunol 2000 Dec 15;165(12):7017-24. doi: 10.4049/jimmunol.165.12.7017. PMID: 11120829
Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies.
Soubrouillard C, Pellissier JF, Lepidi H, Mancini J, Rougon G, Figarella-Branger D
J Neurol Sci 1995 Nov;133(1-2):155-63. doi: 10.1016/0022-510x(95)00182-2. PMID: 8583219
Secretion and cell surface expression of IgG1 are impaired in human B lymphoblasts that lack HLA-A, -B, and -C antigens.
Burlingham WJ, Ceman SS, DeMars R
Proc Natl Acad Sci U S A 1989 Oct;86(20):8005-9. doi: 10.1073/pnas.86.20.8005. PMID: 2682635Free PMC Article
Immunochemical characterization of Syrian hamster major histocompatibility complex homologues.
Phillips JT, Streilein JW, Proia DA, Duncan WR
Adv Exp Med Biol 1981;134:69-85. doi: 10.1007/978-1-4757-0495-2_7. PMID: 6164267

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