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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMHC 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

Recent clinical studies

Etiology

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 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
MHC class II deficiency: definition of a new complementation group.
Villard J, Mach B, Reith W
Immunobiology 1997 Dec;198(1-3):264-72. doi: 10.1016/S0171-2985(97)80046-0. PMID: 9442397
Bone marrow transplantation in major histocompatibility complex class II deficiency: a single-center study of 19 patients.
Klein C, Cavazzana-Calvo M, Le Deist F, Jabado N, Benkerrou M, Blanche S, Lisowska-Grospierre B, Griscelli C, Fischer A
Blood 1995 Jan 15;85(2):580-7. PMID: 7812013
Definition of a novel complementation group in MHC class II deficiency.
Peijnenburg A, Godthelp B, van Boxel-Dezaire A, van den Elsen PJ
Immunogenetics 1995;41(5):287-94. doi: 10.1007/BF00172153. PMID: 7721350

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
MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes.
El Hawary RE, Mauracher AA, Meshaal SS, Eldash A, Abd Elaziz DS, Alkady R, Lotfy S, Opitz L, Galal NM, Boutros JA, Pachlopnik Schmid J, Elmarsafy AM
J Allergy Clin Immunol Pract 2019 Mar;7(3):856-863. Epub 2018 Aug 28 doi: 10.1016/j.jaip.2018.07.046. PMID: 30170160
MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report.
Abolnezhadian F, Saeedi-Boroujeni A, Iranparast S
Iran J Allergy Asthma Immunol 2018 Dec 4;17(6):594-600. PMID: 30644704
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
Cellular and gene therapy for major histocompatibility complex class II deficiency.
Matheux F, Villard J
News Physiol Sci 2004 Jun;19:154-8. doi: 10.1152/nips.01462.2003. PMID: 15143213

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

Prognosis

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
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
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C
Blood 2011 Nov 10;118(19):5108-18. Epub 2011 Sep 8 doi: 10.1182/blood-2011-05-352716. PMID: 21908431
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

Clinical prediction guides

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: 35529857Free 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: 30778343Free 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
Residual expression of functional MHC class II molecules in twin brothers with MHC class II deficiency is cell type specific.
Wolf HM, Thon V, Gulle H, Lechleitner S, Eibl MM, Petzelbauer P
Br J Haematol 2001 Nov;115(2):460-71. doi: 10.1046/j.1365-2141.2001.03105.x. PMID: 11703350

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