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MHC Class II Deficiency

MedGen UID:: 1781237
•Concept ID:: C5447452
•: Disease or Syndrome

Definition

A genetic disorder caused by molecular defects in the genes encoding for four regulatory factors controlling transcription of MHC class II genes. The phenotype is similar to SCID, and susceptibility to infection by viral, bacterial, fungal and protozoal agents is characteristic of the disease. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMHC Class II Deficiency

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Combined immunodeficiency
        Severe combined immunodeficiency disease
        MHC Class II Deficiency

Professional guidelines

PubMed

Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders.

Mishra A, Gupta M, Dalvi A, Ghosh K, Madkaikar M
J Clin Immunol 2014 Apr;34(3):316-22. Epub 2014 Feb 18 doi: 10.1007/s10875-014-9993-7. PMID: 24535004

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

See all (2)

Recent clinical studies

Therapy

Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II.

Damoiseaux M, Damoiseaux J, Pico-Knijnenburg I, van der Burg M, Bredius R, van Well G
Clin Immunol 2022 Feb;235:108932. Epub 2022 Jan 19 doi: 10.1016/j.clim.2022.108932. PMID: 35065305

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

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

Vaccine-associated paralytic poliomyelitis in a patient with MHC class II deficiency.

Parvaneh N, Shahmahmoudi S, Tabatabai H, Zahraei M, Mousavi T, Esteghamati AR, Gooya MM, Mamishi S, Nategh R, Kew OM
J Clin Virol 2007 Jun;39(2):145-8. Epub 2007 May 16 doi: 10.1016/j.jcv.2007.04.002. PMID: 17509935

Trimethoprim-sulfamethoxazole induced prolonged hypoglycemia in an infant with MHC class II deficiency: diazoxide as a treatment option.

Gonc EN, Turul T, Yordam N, Ersoy F
J Pediatr Endocrinol Metab 2003 Dec;16(9):1307-9. doi: 10.1515/jpem.2003.16.9.1307. PMID: 14714756

See all (5)

Prognosis

MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.

Gulec Koksal Z, Bilgic Eltan S, Topyildiz E, Sezer A, Keles S, Celebi Celik F, Ozhan Kont A, Gemici Karaaslan B, Sefer AP, Karali Z, Arik E, Ozek Yucel E, Akcal O, Karakurt LT, Yorgun Altunbas M, Yalcin K, Uygun V, Ozek G, Babayeva R, Aydogmus C, Ozcan D, Cavkaytar O, Keskin O, Kilic SS, Kiykim A, Arikoglu T, Genel F, Gulez N, Guner SN, Karaca NE, Reisli I, Kutukculer N, Altintas DU, Ozen A, Karakoc Aydiner E, Baris S
J Allergy Clin Immunol Pract 2024 Sep;12(9):2490-2502.e6. Epub 2024 Jul 10 doi: 10.1016/j.jaip.2024.06.046. PMID: 38996837

Improved transplant survival and long-term disease outcome in children with MHC class II deficiency.

MHC class II deficiency: Report of a novel mutation and special review.

Farrokhi S, Shabani M, Aryan Z, Zoghi S, Krolo A, Boztug K, Rezaei N
Allergol Immunopathol (Madr) 2018 May-Jun;46(3):263-275. Epub 2017 Jul 1 doi: 10.1016/j.aller.2017.04.006. PMID: 28676232

MHC class II deficiency cured by unrelated mismatched umbilical cord blood transplantation: case report and review of 68 cases in the literature.

Siepermann M, Gudowius S, Beltz K, Strier U, Feyen O, Troeger A, Göbel U, Laws HJ, Kögler G, Meisel R, Dilloo D, Niehues T
Pediatr Transplant 2011 Jun;15(4):E80-6. Epub 2010 Mar 4 doi: 10.1111/j.1399-3046.2010.01292.x. PMID: 20214747

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

See all (16)

Clinical prediction guides

MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.

Inborn Errors of Immunity in Algerian Children and Adults: A Single-Center Experience Over a Period of 13 Years (2008-2021).

Belaid B, Lamara Mahammed L, Drali O, Oussaid AM, Touri NS, Melzi S, Dehimi A, Berkani LM, Merah F, Larab Z, Allam I, Khemici O, Kirane SY, Boutaba M, Belbouab R, Bekkakcha H, Guedouar A, Chelali A, Baamara B, Noui D, Baaziz H, Rezak R, Azzouz SM, Aichaoui M, Moktefi A, Benhatchi RM, Oussalah M, Benaissa N, Laredj A, Bouchetara A, Adria A, Habireche B, Tounsi N, Dahmoun F, Touati R, Boucenna H, Bouferoua F, Sekfali L, Bouhafs N, Aboura R, Kherra S, Inouri Y, Dib S, Medouri N, Khelfaoui N, Redjedal A, Zelaci A, Yahiaoui S, Medjadj S, Touhami TK, Kadi A, Amireche F, Frada I, Houasnia S, Benarab K, Boubidi C, Ferhani Y, Benalioua H, Sokhal S, Benamar N, Aggoune S, Hadji K, Bellouti A, Rahmoune H, Boutrid N, Okka K, Ammour A, Saadoune H, Amroun M, Belhadj H, Ghanem A, Abbaz H, Boudrioua S, Zebiche B, Ayad A, Hamadache Z, Ouaras N, Achour N, Bouchair N, Boudiaf H, Bekkat-Berkani D, Maouche H, Bouzrar Z, Aissat L, Ibsaine O, Bioud B, Kedji L, Dahlouk D, Bensmina M, Radoui A, Bessahraoui M, Bensaadi N, Mekki A, Zeroual Z, Chan KW, Leung D, Tebaibia A, Ayoub S, Mekideche D, Gharnaout M, Casanova JL, Puel A, Lau YL, Cherif N, Ladj S, Smati L, Boukari R, Benhalla N, Djidjik R
Front Immunol 2022;13:900091. Epub 2022 Apr 21 doi: 10.3389/fimmu.2022.900091. PMID: 35529857 Free PMC Article

A novel mutation in RFXANK gene and low B cell count in a patient with MHC class II deficiency: a case report.

Abolnezhadian F, Dehghani R, Dehnavi S, Khodadadi A, Shohan M
Immunol Res 2020 Aug;68(4):225-231. doi: 10.1007/s12026-020-09141-9. PMID: 32578129

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343 Free PMC Article

Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders.

Mishra A, Gupta M, Dalvi A, Ghosh K, Madkaikar M
J Clin Immunol 2014 Apr;34(3):316-22. Epub 2014 Feb 18 doi: 10.1007/s10875-014-9993-7. PMID: 24535004

See all (15)

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MHC Class II Deficiency

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Therapy

Prognosis

Clinical prediction guides

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Table of contents

Practice guidelines

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