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MHC class I and II deficiencies.
Hanna S, Etzioni A. Hanna S, et al. J Allergy Clin Immunol. 2014 Aug;134(2):269-75. doi: 10.1016/j.jaci.2014.06.001. Epub 2014 Jul 4. J Allergy Clin Immunol. 2014. PMID: 25001848 Review.
Deficiencies of MHC complex class I or II are rare primary immunodeficiencies, both of which are inherited in an autosomal recessive pattern. MHC class II deficiency is a prototype of a disease of gene regulation. ...
Deficiencies of MHC complex class I or II are rare primary immunodeficiencies, both of which are inherited in an autosomal recessive pattern …
MHC class II deficiency: definition of a new complementation group.
Villard J, Mach B, Reith W. Villard J, et al. Immunobiology. 1997 Dec;198(1-3):264-72. doi: 10.1016/S0171-2985(97)80046-0. Immunobiology. 1997. PMID: 9442397 Review.
MHC class II deficiency is a severe primary immunodeficiency characterized by the absence of Major Histocompatibility Complex class II gene expression. ...These experiments have allowed us to define a previously unrecognized MHC class …
MHC class II deficiency is a severe primary immunodeficiency characterized by the absence of Major Histocompatib …
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. Siepermann M, et al. Pediatr Transplant. 2011 Jun;15(4):E80-6. doi: 10.1111/j.1399-3046.2010.01292.x. Epub 2010 Mar 4. Pediatr Transplant. 2011. PMID: 20214747 Review.
In the literature search, we identified 68 cases of HSCT in MHC class II deficiency in the last 14 yr. Pre- and post-transplant MHC class II deficiency is complicated by overwhelming viral infections, a high incidence of GvH …
In the literature search, we identified 68 cases of HSCT in MHC class II deficiency in the last 14 yr. Pre- and …
Genetic and molecular definition of complementation group D in MHC class II deficiency.
Fondaneche MC, Villard J, Wiszniewski W, Jouanguy E, Etzioni A, Le Deist F, Peijnenburg A, Casanova JL, Reith W, Mach B, Fischer A, Lisowska-Grospierre B. Fondaneche MC, et al. Hum Mol Genet. 1998 May;7(5):879-85. doi: 10.1093/hmg/7.5.879. Hum Mol Genet. 1998. PMID: 9536093
These include cell lines established from patients affected with MHC class II deficiency and experimentally generated mutant cell lines. ...
These include cell lines established from patients affected with MHC class II deficiency and experimentally gene …
Definition of a novel complementation group in MHC class II deficiency.
Peijnenburg A, Godthelp B, van Boxel-Dezaire A, van den Elsen PJ. Peijnenburg A, et al. Immunogenetics. 1995;41(5):287-94. doi: 10.1007/BF00172153. Immunogenetics. 1995. PMID: 7721350
In this study we analyzed fibroblasts derived from an MHC class II deficiency patient (type III bare lymphocyte syndrome). ...These analyses showed that the fibroblasts of this particular patient belonged to a novel complementation group in MHC …
In this study we analyzed fibroblasts derived from an MHC class II deficiency patient (type III bare lymphocyte …
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. Klein C, et al. Blood. 1995 Jan 15;85(2):580-7. Blood. 1995. PMID: 7812013 Free article. Review.
Major histocompatibility complex (MHC) class II deficiency (bare lymphocyte syndrome) is a rare inborn error of the immune system characterized by impaired antigen presentation and combined immunodeficiency. ...We conclude that HLA-identical and -haplo …
Major histocompatibility complex (MHC) class II deficiency (bare lymphocyte syndrome) is a rare inborn error of …
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. Aluri J, et al. Front Immunol. 2019 Feb 4;10:23. doi: 10.3389/fimmu.2019.00023. eCollection 2019. Front Immunol. 2019. PMID: 30778343 Free PMC article.
Based on immunophenotypic pattern, majority of the cases were T(-)B(-) SCID (39%) followed by T(-)B(+) SCID (28%). MHC class II deficiency accounted for 10.5% of our patient group. ...Rare forms of SCID like Purine nucleoside phosphorylase (PNP) defici …
Based on immunophenotypic pattern, majority of the cases were T(-)B(-) SCID (39%) followed by T(-)B(+) SCID (28%). MHC class …
Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders.
Mishra A, Gupta M, Dalvi A, Ghosh K, Madkaikar M. Mishra A, et al. J Clin Immunol. 2014 Apr;34(3):316-22. doi: 10.1007/s10875-014-9993-7. Epub 2014 Feb 18. J Clin Immunol. 2014. PMID: 24535004
RESULTS: Out of 13 fetuses, nine were found to be unaffected (three cases with leukocyte adhesion deficiency (LAD-I), four cases with severe combined immunodeficiency diseases (SCID), one with X-linked agammaglobulinemia (XLA), and one with chronic granulomatous disease (CGD)] an …
RESULTS: Out of 13 fetuses, nine were found to be unaffected (three cases with leukocyte adhesion deficiency (LAD-I), four cases with severe …
Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.
Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ. Peijnenburg A, et al. Immunogenetics. 1999 Apr;49(4):338-45. doi: 10.1007/s002510050501. Immunogenetics. 1999. PMID: 10079298
Patients suffering from major histocompatibility complex (MHC) class II deficiency, a rare primary immunodeficiency, are characterized by a lack of MHC class II expression which is the result of defects in trans-acting factors. ...In the present study …
Patients suffering from major histocompatibility complex (MHC) class II deficiency, a rare primary immunodeficie …
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. Belaid B, et al. Front Immunol. 2022 Apr 21;13:900091. doi: 10.3389/fimmu.2022.900091. eCollection 2022. Front Immunol. 2022. PMID: 35529857 Free PMC article.
The highest mortality rate was observed in patients with combined immunodeficiency (70.1%), especially in patients with severe combined immunodeficiency (SCID), Omenn syndrome, or Major Histocompatibility Complex (MHC) class II deficiency. CONCLUSION: …
The highest mortality rate was observed in patients with combined immunodeficiency (70.1%), especially in patients with severe combined immu …
25 results