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MHC class II deficiency 2

MedGen UID:
347904
•Concept ID:
C1859535
•
Disease or Syndrome
Synonym: Bare lymphocyte syndrome, type II, complementation group B
 
Monarch Initiative: MONDO:0971013
OMIM®: 620815

Professional guidelines

PubMed

Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience.
Korkmaz SB, Karaselek MA, Aytekin SE, Tokgoz H, Reisli I, Guner S, Keles S
Int J Immunogenet 2023 Aug;50(4):177-184. Epub 2023 Jun 12 doi: 10.1111/iji.12624. PMID: 37308802
Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency.
Picard C, Fischer A
Immunol Allergy Clin North Am 2010 May;30(2):173-8. doi: 10.1016/j.iac.2010.01.001. PMID: 20493394

Recent clinical studies

Etiology

A Prospective Study to Evaluate the Possible Role of Cholecalciferol Supplementation on Autoimmunity in Hashimoto's Thyroiditis.
Bhakat B, Pal J, Das S, Charaborty SK, SircarMedical NR, Kolkata, RGKar, NorthBengal, Siliguri
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116030
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
Update on human systemic lupus erythematosus genetics.
Tsao BP
Curr Opin Rheumatol 2004 Sep;16(5):513-21. doi: 10.1097/01.bor.0000132648.62680.81. PMID: 15314487
Severe combined immunodeficiencies.
Fischer A
Immunodefic Rev 1992;3(2):83-100. PMID: 1554500
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

Improved transplant survival and long-term disease outcome in children with MHC class II deficiency.
Lum SH, Anderson C, McNaughton P, Engelhardt KR, MacKenzie B, Watson H, Al-Mousa H, Al-Herz W, Al-Saud B, Mohammed R, Al-Zahrani DM, Alghamdi HA, Goronfolah L, Nademi Z, Habibollah S, Flinn AM, Shillitoe B, Owens S, Williams E, Emonts M, Hambleton S, Abinun M, Flood T, Cant A, Gennery AR, Slatter M
Blood 2020 Mar 19;135(12):954-973. doi: 10.1182/blood.2019002690. PMID: 31932845
Vasculitis update: pathogenesis and biomarkers.
Brogan P, Eleftheriou D
Pediatr Nephrol 2018 Feb;33(2):187-198. Epub 2017 Aug 7 doi: 10.1007/s00467-017-3597-4. PMID: 28785984Free PMC Article
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
Severe combined immunodeficiencies.
Fischer A
Immunodefic Rev 1992;3(2):83-100. PMID: 1554500
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

A Prospective Study to Evaluate the Possible Role of Cholecalciferol Supplementation on Autoimmunity in Hashimoto's Thyroiditis.
Bhakat B, Pal J, Das S, Charaborty SK, SircarMedical NR, Kolkata, RGKar, NorthBengal, Siliguri
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116030
Landscape and selection of vaccine epitopes in SARS-CoV-2.
Smith CC, Olsen KS, Gentry KM, Sambade M, Beck W, Garness J, Entwistle S, Willis C, Vensko S, Woods A, Fini M, Carpenter B, Routh E, Kodysh J, O'Donnell T, Haber C, Heiss K, Stadler V, Garrison E, Sandor AM, Ting JPY, Weiss J, Krajewski K, Grant OC, Woods RJ, Heise M, Vincent BG, Rubinsteyn A
Genome Med 2021 Jun 14;13(1):101. doi: 10.1186/s13073-021-00910-1. PMID: 34127050Free PMC Article
Improved transplant survival and long-term disease outcome in children with MHC class II deficiency.
Lum SH, Anderson C, McNaughton P, Engelhardt KR, MacKenzie B, Watson H, Al-Mousa H, Al-Herz W, Al-Saud B, Mohammed R, Al-Zahrani DM, Alghamdi HA, Goronfolah L, Nademi Z, Habibollah S, Flinn AM, Shillitoe B, Owens S, Williams E, Emonts M, Hambleton S, Abinun M, Flood T, Cant A, Gennery AR, Slatter M
Blood 2020 Mar 19;135(12):954-973. doi: 10.1182/blood.2019002690. PMID: 31932845
Interferon beta in multiple sclerosis.
Arnason BG
Clin Immunol Immunopathol 1996 Oct;81(1):1-11. doi: 10.1006/clin.1996.0149. PMID: 8808634
Severe combined immunodeficiencies.
Fischer A
Immunodefic Rev 1992;3(2):83-100. PMID: 1554500

Prognosis

Landscape and selection of vaccine epitopes in SARS-CoV-2.
Smith CC, Olsen KS, Gentry KM, Sambade M, Beck W, Garness J, Entwistle S, Willis C, Vensko S, Woods A, Fini M, Carpenter B, Routh E, Kodysh J, O'Donnell T, Haber C, Heiss K, Stadler V, Garrison E, Sandor AM, Ting JPY, Weiss J, Krajewski K, Grant OC, Woods RJ, Heise M, Vincent BG, Rubinsteyn A
Genome Med 2021 Jun 14;13(1):101. doi: 10.1186/s13073-021-00910-1. PMID: 34127050Free PMC Article
Improved transplant survival and long-term disease outcome in children with MHC class II deficiency.
Lum SH, Anderson C, McNaughton P, Engelhardt KR, MacKenzie B, Watson H, Al-Mousa H, Al-Herz W, Al-Saud B, Mohammed R, Al-Zahrani DM, Alghamdi HA, Goronfolah L, Nademi Z, Habibollah S, Flinn AM, Shillitoe B, Owens S, Williams E, Emonts M, Hambleton S, Abinun M, Flood T, Cant A, Gennery AR, Slatter M
Blood 2020 Mar 19;135(12):954-973. doi: 10.1182/blood.2019002690. PMID: 31932845
Vasculitis update: pathogenesis and biomarkers.
Brogan P, Eleftheriou D
Pediatr Nephrol 2018 Feb;33(2):187-198. Epub 2017 Aug 7 doi: 10.1007/s00467-017-3597-4. PMID: 28785984Free PMC Article
Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency.
Picard C, Fischer A
Immunol Allergy Clin North Am 2010 May;30(2):173-8. doi: 10.1016/j.iac.2010.01.001. PMID: 20493394
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

Landscape and selection of vaccine epitopes in SARS-CoV-2.
Smith CC, Olsen KS, Gentry KM, Sambade M, Beck W, Garness J, Entwistle S, Willis C, Vensko S, Woods A, Fini M, Carpenter B, Routh E, Kodysh J, O'Donnell T, Haber C, Heiss K, Stadler V, Garrison E, Sandor AM, Ting JPY, Weiss J, Krajewski K, Grant OC, Woods RJ, Heise M, Vincent BG, Rubinsteyn A
Genome Med 2021 Jun 14;13(1):101. doi: 10.1186/s13073-021-00910-1. PMID: 34127050Free PMC Article
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
Vasculitis update: pathogenesis and biomarkers.
Brogan P, Eleftheriou D
Pediatr Nephrol 2018 Feb;33(2):187-198. Epub 2017 Aug 7 doi: 10.1007/s00467-017-3597-4. PMID: 28785984Free PMC Article
Microchimerism, dendritic cell progenitors and transplantation tolerance.
Thomson AW, Lu L, Murase N, Demetris AJ, Rao AS, Starzl TE
Stem Cells 1995 Nov;13(6):622-39. doi: 10.1002/stem.5530130607. PMID: 8590864Free 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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