Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
1980 1
1981 2
1983 1
1984 1
1985 4
1986 4
1987 2
1988 2
1989 4
1990 4
1991 4
1992 4
1993 7
1994 6
1995 13
1996 6
1997 9
1998 8
1999 11
2000 9
2001 7
2002 7
2003 1
2004 2
2005 6
2006 3
2007 2
2008 2
2009 1
2010 2
2011 1
2012 4
2013 3
2014 1
2015 3
2016 3
2017 2
2018 1
2019 1
2020 3
2021 6
2022 4
2023 5
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

166 results

Results by year

Filters applied: . Clear all
Page 1
A large single-center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey.
Ünsal H, Caka C, Bildik HN, Esenboğa S, Kupesiz A, Kuşkonmaz B, Cetinkaya DU, van der Burg M, Tezcan İ, Çağdaş D. Ünsal H, et al. Scand J Immunol. 2024 Jan;99(1):e13335. doi: 10.1111/sji.13335. Epub 2023 Oct 15. Scand J Immunol. 2024. PMID: 38441205
Major histocompatibility complex class II (MHC-II) deficiency or bare lymphocyte syndrome (BLS) is a rare, early-onset, autosomal recessive, and life-threatening inborn error of immunity. ...
Major histocompatibility complex class II (MHC-II) deficiency or bare lymphocyte syndrome (BLS) is a rare, early-onset, …
Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene.
Alosaimi MF, Hamad MH, AlShammari MJ, Jamjoom DZ, Musibeeh NS. Alosaimi MF, et al. Front Pediatr. 2023 Sep 29;11:1269396. doi: 10.3389/fped.2023.1269396. eCollection 2023. Front Pediatr. 2023. PMID: 37842025 Free PMC article.
BACKGROUND: Bare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the CIITA gene, which regulates major histocompatibility complex class II (MHC II) expression. ...
BACKGROUND: Bare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by muta …
HLA DQ protein changes the cell surface distribution pattern of HLA proteins as monitored by Förster resonance energy transfer and high-resolution electron microscopy.
Kormos J, Veres AJ, Imre L, Mátyus L, Benkő S, Szöllősi J, Jenei A. Kormos J, et al. Cytometry A. 2023 Dec;103(12):978-991. doi: 10.1002/cyto.a.24787. Epub 2023 Aug 31. Cytometry A. 2023. PMID: 37605541
It is not clear how the absence and reappearance of some protein molecules can influence the nonrandom distribution. Therefore, we performed experiments on HLA II-deficient bare lymphocyte syndrome (BLS1) cells: we created a stable transfected cell line, tDQ6 …
It is not clear how the absence and reappearance of some protein molecules can influence the nonrandom distribution. Therefore, we performed …
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home.
Al-Saud B, AlRumayyan N, Alfattani A, Awwad SA, Al Saud D, Mohammed R, Albuhairi S, Elshorbagi S, Balhareth SS, Al-Dhekri H, Arnaout R, De Vol EB, Al-Mousa H. Al-Saud B, et al. J Clin Immunol. 2023 Aug;43(6):1360-1366. doi: 10.1007/s10875-023-01507-6. Epub 2023 May 5. J Clin Immunol. 2023. PMID: 37145392 Free PMC article.
The patients' diagnoses included severe combined immunodeficiency, combined immunodeficiency, agammaglobulinemia, Omenn syndrome, immunodysregulation, hyper-IgE syndrome, common variable immunodeficiency, and bare lymphocyte syndrome. The median duration on I …
The patients' diagnoses included severe combined immunodeficiency, combined immunodeficiency, agammaglobulinemia, Omenn syndrome, immunodysr …
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
Darazam IA, Hakamifard A, Momenilandi M, Materna M, Gharehbagh FJ, Shahrooei M, Olyaei NA, Zerehpoosh FB, Fayand A, Hatami F, Lotfollahi L, Mansouri N, Casanova JL, Béziat V, Mansouri D. Darazam IA, et al. J Clin Immunol. 2023 Jan;43(1):217-228. doi: 10.1007/s10875-022-01374-7. Epub 2022 Oct 13. J Clin Immunol. 2023. PMID: 36227411
Major histocompatibility complex class I (MHC-I) deficiency, also known as bare lymphocyte syndrome type 1 (BLS-1), is a rare autosomal recessively inherited immunodeficiency disorder with remarkable clinical and biological heterogeneity. ...
Major histocompatibility complex class I (MHC-I) deficiency, also known as bare lymphocyte syndrome type 1 (BLS-1), is …
A Spontaneous H2-Aa Point Mutation Impairs MHC II Synthesis and CD4+ T-Cell Development in Mice.
Zhao Y, Xiong J, Chen HX, Zhang M, Zhou LN, Wu YF, Li WJ, Fei X, Li F, Zhu C, Li W, Ying SM, Wang L, Chen ZH, Shen HH. Zhao Y, et al. Front Immunol. 2022 Mar 4;13:810824. doi: 10.3389/fimmu.2022.810824. eCollection 2022. Front Immunol. 2022. PMID: 35309308 Free PMC article.
Abnormal MHC II expression can lead to immunodeficiency, clinically termed as type II bare lymphocyte syndrome (BLS), which usually results from mutations in the MHC II transactivator (CIITA) and other coactivators. ...
Abnormal MHC II expression can lead to immunodeficiency, clinically termed as type II bare lymphocyte syndrome (BLS), w …
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. Damoiseaux M, et al. Clin Immunol. 2022 Feb;235:108932. doi: 10.1016/j.clim.2022.108932. Epub 2022 Jan 19. Clin Immunol. 2022. PMID: 35065305 Free article.
Genetic analysis revealed a novel RFXANK mutation, c.232C > T, resulting in a stop codon, with consequently defective transcription of MHC class II resulting in bare lymphocyte syndrome (BLS) type II. The initial unawareness of complete absence of MHC clas …
Genetic analysis revealed a novel RFXANK mutation, c.232C > T, resulting in a stop codon, with consequently defective transcription of MH …
Positive and negative selection shape the human naive B cell repertoire.
Chen JW, Schickel JN, Tsakiris N, Sng J, Arbogast F, Bouis D, Parisi D, Gera R, Boeckers JM, Delmotte FR, Veselits M, Schuetz C, Jacobsen EM, Posovszky C, Schulz AS, Schwarz K, Clark MR, Menard L, Meffre E. Chen JW, et al. J Clin Invest. 2022 Jan 18;132(2):e150985. doi: 10.1172/JCI150985. J Clin Invest. 2022. PMID: 34813502 Free PMC article.
Indeed, both defective MHC class II expression on B cells of patients with rare bare lymphocyte syndrome and prevention of self-antigen presentation via HLA-DM inhibition in humanized mice resulted in the production of autoreactive naive B cells. ...
Indeed, both defective MHC class II expression on B cells of patients with rare bare lymphocyte syndrome and prevention …
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency.
Ferrua F, Bortolomai I, Fontana E, Di Silvestre D, Rigoni R, Marcovecchio GE, Draghici E, Brambilla F, Castiello MC, Delfanti G, Moshous D, Picard C, Taghon T, Bordon V, Schulz AS, Schuetz C, Giliani S, Soresina A, Gennery AR, Signa S, Dávila Saldaña BJ, Delmonte OM, Notarangelo LD, Roifman CM, Poliani PL, Uva P, Mauri PL, Villa A, Bosticardo M. Ferrua F, et al. Front Immunol. 2021 Jun 15;12:669943. doi: 10.3389/fimmu.2021.669943. eCollection 2021. Front Immunol. 2021. PMID: 34211466 Free PMC article.
Major Histocompatibility Complex (MHC) class II (MHCII) deficiency (MHCII-D), also known as Bare Lymphocyte Syndrome (BLS), is a rare combined immunodeficiency due to mutations in genes regulating expression of MHCII molecules. ...
Major Histocompatibility Complex (MHC) class II (MHCII) deficiency (MHCII-D), also known as Bare Lymphocyte Syndrome (B …
Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome.
Alharby E, Obaid M, Elamin MAO, Almuntashri M, Bakhsh I, Samman M, Peake RWA, Alasmari A, Almontashiri NAM. Alharby E, et al. Neurol Genet. 2021 Apr 9;7(3):e586. doi: 10.1212/NXG.0000000000000586. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 33855173 Free PMC article.
RESULTS: We identified a homozygous loss-of-function (LOF) mutation (c.271+1G>C) in the RFXANK gene in the index patient and one of his younger affected siblings. Biallelic mutations in the RFXANK gene are known to cause bare lymphocyte syndrome (BLS) type …
RESULTS: We identified a homozygous loss-of-function (LOF) mutation (c.271+1G>C) in the RFXANK gene in the index patient and one of his y …
Toward a humanized mouse model of Pneumocystis pneumonia.
Dai G, Wanek A, Eddens T, Volden P, Kolls JK. Dai G, et al. JCI Insight. 2021 Jan 25;6(2):e139573. doi: 10.1172/jci.insight.139573. JCI Insight. 2021. PMID: 33491669 Free PMC article.
These same genes were downregulated in CD4-deficient mice as well as twins with bare lymphocyte syndrome with Pneumocystis pneumonia....
These same genes were downregulated in CD4-deficient mice as well as twins with bare lymphocyte syndrome with Pneumocys …
Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report.
Zhang Y, Yokoyama Y, Qing Y, Han C, Zhu J, Yu T, Yin L, Yao R, Wang J. Zhang Y, et al. Asian Pac J Allergy Immunol. 2024 Mar;42(1):81-85. doi: 10.12932/AP-020720-0898. Asian Pac J Allergy Immunol. 2024. PMID: 33386785 Free article.
BACKGROUND: Type II bare lymphocyte syndrome (BLS II) group A is a rare primary severe immunodeficiency caused by defects in CIITA, one of genes encoding transcriptional regulatory factors for MHC II molecules. ...
BACKGROUND: Type II bare lymphocyte syndrome (BLS II) group A is a rare primary severe immunodeficiency caused by defec …
HLA-DR covers Bare Lymphocyte Syndrome.
Yadav RM, Bargir UA, Ganapule A, Dalvi A, Gupta M, Madkaikar M. Yadav RM, et al. Scand J Immunol. 2021 Feb;93(2):e12968. doi: 10.1111/sji.12968. Epub 2020 Sep 26. Scand J Immunol. 2021. PMID: 32875602 Free article. No abstract available.
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Dasouki M, Jabr A, AlDakheel G, Elbadaoui F, Alazami AM, Al-Saud B, Arnaout R, Aldhekri H, Alotaibi I, Al-Mousa H, Hawwari A. Dasouki M, et al. Clin Exp Immunol. 2020 Oct;202(1):60-71. doi: 10.1111/cei.13484. Epub 2020 Jul 21. Clin Exp Immunol. 2020. PMID: 32691468 Free PMC article.
Two of five patients with Wiskott-Aldrich syndrome (WAS) had low TREC counts as well as one patient each with bare lymphocyte syndrome (BLS) and chronic granulomatous disease. ...
Two of five patients with Wiskott-Aldrich syndrome (WAS) had low TREC counts as well as one patient each with bare lymphocyte …
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. Abolnezhadian F, et al. Immunol Res. 2020 Aug;68(4):225-231. doi: 10.1007/s12026-020-09141-9. Immunol Res. 2020. PMID: 32578129
Recurrence of severe microbial infections results from a primary immunodeficiency disorder known as major histocompatibility complex class II deficiency or bare lymphocyte syndrome type II. Immunologic function is severely impaired due to the absence of MHC c …
Recurrence of severe microbial infections results from a primary immunodeficiency disorder known as major histocompatibility complex class I …
Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome.
Law-Ping-Man S, Toutain F, Rieux-Laucat F, Picard C, Kammerer-Jacquet S, Magérus-Chatinet A, Dupuy A, Adamski H. Law-Ping-Man S, et al. Pediatr Dermatol. 2018 Nov;35(6):e375-e377. doi: 10.1111/pde.13676. Epub 2018 Sep 6. Pediatr Dermatol. 2018. PMID: 30189467
Transporter associated with antigen processing (TAP) is essential for the stabilization and surface expression of major histocompatibility complex class I molecules of all nucleated cells. TAP deficiency syndrome, also known as bare lymphocyte syndrome type I …
Transporter associated with antigen processing (TAP) is essential for the stabilization and surface expression of major histocompatibility c …
[A major histocompatibility complex class Ⅱ deficiency case report and literature review].
Wu WC, Wang W, Song HM, Ma MS, Tang XY, Jian S, Zhang MQ, Xiao J, Qiu ZQ, Liu YL. Wu WC, et al. Zhonghua Er Ke Za Zhi. 2016 Aug;54(8):614-8. doi: 10.3760/cma.j.issn.0578-1310.2016.08.013. Zhonghua Er Ke Za Zhi. 2016. PMID: 27510876 Review. Chinese.
METHOD: The clinical features, laboratory results and gene mutation analysis of an infant with MHC class deficiency, who was diagnosed and treated in Peking Union Medical College Hospital since December 2013, were retrospectively analyzed."Major histocompatibility complex class d …
METHOD: The clinical features, laboratory results and gene mutation analysis of an infant with MHC class deficiency, who was diagnosed and t …
Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent.
Clarridge K, Leitenberg D, Loechelt B, Picard C, Keller M. Clarridge K, et al. J Clin Immunol. 2016 Jan;36(1):4-5. doi: 10.1007/s10875-015-0219-4. Epub 2015 Dec 3. J Clin Immunol. 2016. PMID: 26634365 Free PMC article.
MHC Class II deficiency (also known as bare lymphocyte syndrome type II) is a rare primary immunodeficiency disorder inherited in an autosomal recessive fashion resulting from the absence of MHC class II molecules on the surface of immune cells. ...
MHC Class II deficiency (also known as bare lymphocyte syndrome type II) is a rare primary immunodeficiency disorder in …
Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8.
Nie J, Xu C, Jin J, Aka JA, Tempel W, Nguyen V, You L, Weist R, Min J, Pawson T, Yang XJ. Nie J, et al. Structure. 2015 Apr 7;23(4):700-12. doi: 10.1016/j.str.2015.02.001. Epub 2015 Mar 5. Structure. 2015. PMID: 25752541 Free article.
We have recently demonstrated that ankyrin repeats of ANKRA2 and the paralogous bare lymphocyte syndrome transcription factor RFXANK recognize PxLPxL/I motifs shared by megalin, three histone deacetylases, and RFX5. ...
We have recently demonstrated that ankyrin repeats of ANKRA2 and the paralogous bare lymphocyte syndrome transcription …
Disseminated Bacillus Calmette-Guerin (BCG) infection following allogeneic hematopoietic stem cell transplant in a patient with Bare Lymphocyte Syndrome type II.
Abu-Arja RF, Gonzalez BE, Jacobs MR, Cabral L, Egler R, Auletta J, Arnold J, Cooke KR. Abu-Arja RF, et al. Transpl Infect Dis. 2014 Oct;16(5):830-7. doi: 10.1111/tid.12263. Epub 2014 Jul 4. Transpl Infect Dis. 2014. PMID: 24995715 Free PMC article.
We describe the first case, to our knowledge, of disseminated Mycobacterium bovis Bacillus Calmette-Guerin infection in a child with Bare Lymphocyte Syndrome type II after undergoing hematopoietic stem cell transplantation (HSCT). ...
We describe the first case, to our knowledge, of disseminated Mycobacterium bovis Bacillus Calmette-Guerin infection in a child with Bare …
CIITA and Its Dual Roles in MHC Gene Transcription.
Devaiah BN, Singer DS. Devaiah BN, et al. Front Immunol. 2013 Dec 20;4:476. doi: 10.3389/fimmu.2013.00476. Front Immunol. 2013. PMID: 24391648 Free PMC article.
As such, it plays a critical role in immune responses: CIITA deficiency results in aberrant MHC gene expression and consequently in autoimmune diseases such as Type II bare lymphocyte syndrome. Although CIITA does not bind DNA directly, it regulates MHC trans …
As such, it plays a critical role in immune responses: CIITA deficiency results in aberrant MHC gene expression and consequently in autoimmu …
Transcriptional coactivator CIITA, a functional homolog of TAF1, has kinase activity.
Soe KC, Devaiah BN, Singer DS. Soe KC, et al. Biochim Biophys Acta. 2013 Nov;1829(11):1184-90. doi: 10.1016/j.bbagrm.2013.09.001. Epub 2013 Sep 13. Biochim Biophys Acta. 2013. PMID: 24036077 Free PMC article.
The Major Histocompatibility Complex (MHC) class II transactivator (CIITA) mediates activated immune responses and its deficiency results in the Type II Bare Lymphocyte Syndrome. CIITA is a transcriptional co-activator that regulates gamma-interferon-activate …
The Major Histocompatibility Complex (MHC) class II transactivator (CIITA) mediates activated immune responses and its deficiency results in …
Oral HPV infection and MHC class II deficiency (A study of two cases with atypical outcome).
Guirat-Dhouib N, Baccar Y, Mustapha IB, Ouederni M, Chouaibi S, El Fekih N, Barbouche MR, Fezaa B, Kouki R, Hmida S, Mellouli F, Bejaoui M. Guirat-Dhouib N, et al. Clin Mol Allergy. 2012 Apr 23;10(1):6. doi: 10.1186/1476-7961-10-6. Clin Mol Allergy. 2012. PMID: 22524894 Free PMC article.
BACKGROUND: Major histocompatibility complex class II deficiency, also referred to as bare lymphocyte syndrome is a rare primary Immunodeficiency disorder characterized by a profondly deficient human leukocyte antigen class II expression and a lack of cellula …
BACKGROUND: Major histocompatibility complex class II deficiency, also referred to as bare lymphocyte syndrome is a rar …
Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report.
Gokturk B, Artac H, van Eggermond MJ, van den Elsen P, Reisli İ. Gokturk B, et al. Int J Immunogenet. 2012 Aug;39(4):362-4. doi: 10.1111/j.1744-313X.2012.01105.x. Epub 2012 Mar 6. Int J Immunogenet. 2012. PMID: 22390233
Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. ...
Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Clas …
Comments on type I bare lymphocyte syndrome.
Zimmer J, Andrès E. Zimmer J, et al. Immunol Lett. 2012 Apr 30;143(2):218-9. doi: 10.1016/j.imlet.2012.01.007. Epub 2012 Jan 30. Immunol Lett. 2012. PMID: 22321372 No abstract available.
Bare lymphocyte syndrome: an opportunity to discover our immune system.
Shrestha D, Szöllosi J, Jenei A. Shrestha D, et al. Immunol Lett. 2012 Jan 30;141(2):147-57. doi: 10.1016/j.imlet.2011.10.007. Epub 2011 Oct 17. Immunol Lett. 2012. PMID: 22027563 Review.
Bare lymphocyte syndrome (BLS) is a rare immunodeficiency disorder manifested by the partial or complete disappearance of major histocompatibility complex (MHC) proteins from the surface of the cells. ...
Bare lymphocyte syndrome (BLS) is a rare immunodeficiency disorder manifested by the partial or complete disappearance …
Mouse strains with point mutations in TAP1 and TAP2.
Theodoratos A, Whittle B, Enders A, Tscharke DC, Roots CM, Goodnow CC, Fahrer AM. Theodoratos A, et al. Immunol Cell Biol. 2010 Jan;88(1):72-8. doi: 10.1038/icb.2009.61. Epub 2009 Sep 1. Immunol Cell Biol. 2010. PMID: 19721454
The two mouse strains provide additional animal models for the human condition Bare Lymphocyte syndrome type 1, and identify new residues important for TAP function....
The two mouse strains provide additional animal models for the human condition Bare Lymphocyte syndrome type 1, and ide …
Nasal polyposis: is there an inheritance pattern? A single family study.
Delagrand A, Gilbert-Dussardier B, Burg S, Allano G, Gohler-Desmonts C, Lebreton JP, Dufour X, Klossek JM. Delagrand A, et al. Rhinology. 2008 Jun;46(2):125-30. Rhinology. 2008. PMID: 18575014
RESULTS: Thirteen patients had a personal history of NP without asthma, aspirin intolerance, Churg Strauss syndrome, cystic fibrosis, Young's syndrome, bare lymphocyte syndrome, or primary ciliary dyskinesia. Within this family, 19.7% of those older than 17 y …
RESULTS: Thirteen patients had a personal history of NP without asthma, aspirin intolerance, Churg Strauss syndrome, cystic fibrosis, Young' …
Identification of regulatory factor X as a novel mismatch repair stimulatory factor.
Zhang Y, Yuan F, Wang D, Gu L, Li GM. Zhang Y, et al. J Biol Chem. 2008 May 9;283(19):12730-5. doi: 10.1074/jbc.M800460200. Epub 2008 Mar 4. J Biol Chem. 2008. PMID: 18319249 Free PMC article.
Peptide sequencing analysis by tandem mass spectrometry identified the stimulatory factor as the heterotrimeric regulatory factor X (RFX) complex, which regulates transcription of the class II major histocompatibility complex by facilitating histone acetylation and is defective i …
Peptide sequencing analysis by tandem mass spectrometry identified the stimulatory factor as the heterotrimeric regulatory factor X (RFX) co …
CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance.
Hervé M, Isnardi I, Ng YS, Bussel JB, Ochs HD, Cunningham-Rundles C, Meffre E. Hervé M, et al. J Exp Med. 2007 Jul 9;204(7):1583-93. doi: 10.1084/jem.20062287. Epub 2007 Jun 11. J Exp Med. 2007. PMID: 17562816 Free PMC article.
Thus, CD40L-CD40 interactions are essential for peripheral B cell tolerance. In addition, a patient with the bare lymphocyte syndrome who could not express MHC class II molecules failed to counterselect autoreactive mature naive B cells, suggesting that perip …
Thus, CD40L-CD40 interactions are essential for peripheral B cell tolerance. In addition, a patient with the bare lymphocyte …
Regulation of MHC class II expression, a unique regulatory system identified by the study of a primary immunodeficiency disease.
Krawczyk M, Reith W. Krawczyk M, et al. Tissue Antigens. 2006 Mar;67(3):183-97. doi: 10.1111/j.1399-0039.2006.00557.x. Tissue Antigens. 2006. PMID: 16573555 Review.
Defective MHC-II expression causes a severe immunodeficiency disease called bare lymphocyte syndrome (BLS). Studies of the molecular defects underlying BLS have been pivotal for characterization of the regulatory system controlling the transcription of MHC-II …
Defective MHC-II expression causes a severe immunodeficiency disease called bare lymphocyte syndrome (BLS). Studies of …
Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression.
Long AB, Ferguson AM, Majumder P, Nagarajan UM, Boss JM. Long AB, et al. Mol Immunol. 2006 Feb;43(5):395-409. doi: 10.1016/j.molimm.2005.03.008. Epub 2005 Apr 12. Mol Immunol. 2006. PMID: 16337482
Mutations in RFXAP are the genetic basis for complementation group D cases of the bare lymphocyte syndrome (BLS) immunodeficiency. Comparative genomic sequence analysis was conducted and found that only the C-terminal half of the protein is conserved among ve …
Mutations in RFXAP are the genetic basis for complementation group D cases of the bare lymphocyte syndrome (BLS) immuno …
MHC class II expression through a hitherto unknown pathway supports T helper cell-dependent immune responses: implications for MHC class II deficiency.
Buch T, Polic B, Clausen BE, Weiss S, Akilli-Ozturk O, Chang CH, Flavell R, Schulz A, Jonjic S, Waisman A, Förster I. Buch T, et al. Blood. 2006 Feb 15;107(4):1434-44. doi: 10.1182/blood-2004-09-3445. Epub 2005 Oct 27. Blood. 2006. PMID: 16254146 Free article.
MHC class II (MHCII) deficiency or bare lymphocyte syndrome (BLS) is a severe immunodeficiency characterized by deficient T helper (Th)-cell-dependent immunity. ...
MHC class II (MHCII) deficiency or bare lymphocyte syndrome (BLS) is a severe immunodeficiency characterized by deficie …
[Molecular basis of HLA class-I deficiency and bare lymphocyte syndrome (BLS)].
Dzik M, Majdan M. Dzik M, et al. Postepy Hig Med Dosw (Online). 2005;59:245-9. Postepy Hig Med Dosw (Online). 2005. PMID: 15995590 Review. Polish.
There are rare immunodeficiencies which result in impaired HLA antigen expression on cell membranes and which are called bare lymphocyte syndrome (BLS). These diseases allow us to gain insight into the roles of antigen-processing pathways in HLA class I expre …
There are rare immunodeficiencies which result in impaired HLA antigen expression on cell membranes and which are called bare lymp …
Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases.
Wang AH, Grégoire S, Zika E, Xiao L, Li CS, Li H, Wright KL, Ting JP, Yang XJ. Wang AH, et al. J Biol Chem. 2005 Aug 12;280(32):29117-27. doi: 10.1074/jbc.M500295200. Epub 2005 Jun 17. J Biol Chem. 2005. PMID: 15964851 Free article.
Mutations on genes of the RFX subunits and the coactivator CIITA are responsible for the bare lymphocyte syndrome, an immunodeficiency disorder attributed to the lack of major histocompatibility complex class II (MHCII) antigens. ...
Mutations on genes of the RFX subunits and the coactivator CIITA are responsible for the bare lymphocyte syndrome, an i …
Single nucleotide polymorphisms in the gene encoding the major histocompatibility complex class II transactivator (CIITA) in systemic lupus erythematosus.
Koizumi K, Okamoto H, Iikuni N, Nakamura T, Kawamoto M, Momohara S, Ichikawa N, Furuya T, Kotake S, Taniguchi A, Yamanaka H, Kamatani N. Koizumi K, et al. Ann Rheum Dis. 2005 Jun;64(6):947-50. doi: 10.1136/ard.2004.025767. Ann Rheum Dis. 2005. PMID: 15897313 Free PMC article.
Additionally, a new polymorphism in an intronic region at nt 485 (A-->A/G) was identified, which is close to the polymorphism at nt 474 that has been associated with one of the disease causing CIITA cDNA mutations in bare lymphocyte syndrome. This SNP was …
Additionally, a new polymorphism in an intronic region at nt 485 (A-->A/G) was identified, which is close to the polymorphism at nt 474 t …
Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2.
Long AB, Boss JM. Long AB, et al. Immunogenetics. 2005 Feb;56(11):788-97. doi: 10.1007/s00251-004-0738-2. Epub 2005 Jan 18. Immunogenetics. 2005. PMID: 15655668
Deficiencies in four proteins that regulate MHC II genes in humans (RFX-B, RFX5, RFXAP, and CIITA) cause an inherited immunodeficiency disorder known as the bare lymphocyte syndrome (BLS). To understand the structure and mechanism of function of the BLS trans …
Deficiencies in four proteins that regulate MHC II genes in humans (RFX-B, RFX5, RFXAP, and CIITA) cause an inherited immunodeficiency disor …
[Research progress on regulation of class II MHC expression].
Sun QH, Peng JP. Sun QH, et al. Sheng Li Ke Xue Jin Zhan. 2004 Jan;35(1):25-9. Sheng Li Ke Xue Jin Zhan. 2004. PMID: 15127593 Chinese.
The absence of MHC II normal expression results in severe primary immunodeficiency diseases, such as the bare lymphocyte syndrome (BLS). Four different MHC II regulatory genes have been identified. ...
The absence of MHC II normal expression results in severe primary immunodeficiency diseases, such as the bare lymphocyte sy …
In vivo, RFX5 binds differently to the human leucocyte antigen-E, -F, and -G gene promoters and participates in HLA class I protein expression in a cell type-dependent manner.
Rousseau P, Masternak K, Krawczyk M, Reith W, Dausset J, Carosella ED, Moreau P. Rousseau P, et al. Immunology. 2004 Jan;111(1):53-65. doi: 10.1111/j.1365-2567.2004.01783.x. Immunology. 2004. PMID: 14678199 Free PMC article.
Chromatin immunoprecipitation assays, performed on HLA-G positive and negative cell lines, demonstrated the in situ binding of RFX5 and CIITA to HLA-E and HLA-F, but not to HLA-G, promoters. In B cells from bare lymphocyte syndrome patients lacking RFX5 or CI …
Chromatin immunoprecipitation assays, performed on HLA-G positive and negative cell lines, demonstrated the in situ binding of RFX5 and CIIT …
When the lymphocyte loses its clothes.
Nekrep N, Fontes JD, Geyer M, Peterlin BM. Nekrep N, et al. Immunity. 2003 Apr;18(4):453-7. doi: 10.1016/s1074-7613(03)00086-4. Immunity. 2003. PMID: 12705848 Free article. Review.
The type II bare lymphocyte syndrome (BLS) or major histocompatibility complex class II (MHCII) deficiency is a severe combined immunodeficiency (SCID) that is characterized by the absence of constitutive and inducible expression of MHCII determinants on immu …
The type II bare lymphocyte syndrome (BLS) or major histocompatibility complex class II (MHCII) deficiency is a severe …
Evidence for discoordinate regulation of the HLA-DPB1 gene.
Coiras MT, Alvarez-Barrientos AM, Díaz G, Arroyo J, Sánchez-Pérez M. Coiras MT, et al. Tissue Antigens. 2002 Dec;60(6):505-14. doi: 10.1034/j.1399-0039.2002.600606.x. Tissue Antigens. 2002. PMID: 12542744
Characterization of cell lines derived from patients with type II bare lymphocyte syndrome, a pathological state in which the constitutive and inducible expression of HLA class II antigens is lacking, has permitted the identification of several trans-acting f …
Characterization of cell lines derived from patients with type II bare lymphocyte syndrome, a pathological state in whi …
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome.
Nekrep N, Jabrane-Ferrat N, Wolf HM, Eibl MM, Geyer M, Peterlin BM. Nekrep N, et al. Nat Immunol. 2002 Nov;3(11):1075-81. doi: 10.1038/ni840. Epub 2002 Sep 30. Nat Immunol. 2002. PMID: 12368908
Bare lymphocyte syndrome (BLS) is an autosomal recessive severe-combined immunodeficiency that can result from mutations in four different transcription factors that regulate the expression of major histocompatibility complex (MHC) class II genes. ...
Bare lymphocyte syndrome (BLS) is an autosomal recessive severe-combined immunodeficiency that can result from mutation …
Differential presentation of group A streptococcal superantigens by HLA class II DQ and DR alleles.
Norrby-Teglund A, Nepom GT, Kotb M. Norrby-Teglund A, et al. Eur J Immunol. 2002 Sep;32(9):2570-7. doi: 10.1002/1521-4141(200209)32:9<2570::AID-IMMU2570>3.0.CO;2-E. Eur J Immunol. 2002. PMID: 12207341 Free article.
Here we studied the influence of allelic and isotypic variation of HLA class II molecules on GAS superantigen-induced immune responses using cells derived from patients with bare lymphocyte syndrome, untransfected or transfected with various HLA class II alle …
Here we studied the influence of allelic and isotypic variation of HLA class II molecules on GAS superantigen-induced immune responses using …
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.
Yabe T, Kawamura S, Sato M, Kashiwase K, Tanaka H, Ishikawa Y, Asao Y, Oyama J, Tsuruta K, Tokunaga K, Tadokoro K, Juji T. Yabe T, et al. Blood. 2002 Aug 15;100(4):1496-8. doi: 10.1182/blood-2001-12-0252. Blood. 2002. PMID: 12149238 Free article.
Defects in TAP result in a class I deficiency called the type I bare lymphocyte syndrome (BLS). In the present study, we examined a subject with a novel type I BLS who does not exhibit apparent TAP abnormalities but who has a tapasin defect. ...
Defects in TAP result in a class I deficiency called the type I bare lymphocyte syndrome (BLS). In the present study, w …
Major histocompatibility complex class II transcriptional platform: assembly of nuclear factor Y and regulatory factor X (RFX) on DNA requires RFX5 dimers.
Jabrane-Ferrat N, Nekrep N, Tosi G, Esserman LJ, Peterlin BM. Jabrane-Ferrat N, et al. Mol Cell Biol. 2002 Aug;22(15):5616-25. doi: 10.1128/MCB.22.15.5616-5625.2002. Mol Cell Biol. 2002. PMID: 12101253 Free PMC article.
We conclude that the MHC-II transcriptional platform begins to assemble off CUS and then binds DNA via multiple, spatially constrained interactions. These findings offer one explanation of why in the Bare Lymphocyte Syndrome, which is a congenital severe comb …
We conclude that the MHC-II transcriptional platform begins to assemble off CUS and then binds DNA via multiple, spatially constrained inter …
Long-term expression of an HLA-DQ molecule in the EBV-transformed bare lymphocyte cell line, BLS-1, using a plasmid vector.
Kelly MA, Rayner ML, Mijovic CH, Barnett AH. Kelly MA, et al. Scand J Immunol. 2002 Jun;55(6):599-605. doi: 10.1046/j.1365-3083.2002.01100.x. Scand J Immunol. 2002. PMID: 12028563 Free article.
In order to investigate this function, we have created an in vitro model which expresses DQ6 in isolation by introducing the relevant DQ alleles into an Epstein-Barr virus (EBV)-transformed, human leucocyte antigen (HLA) class II-deficient B cell line, bare lymphocyte …
In order to investigate this function, we have created an in vitro model which expresses DQ6 in isolation by introducing the relevant DQ all …
Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA).
Patarroyo JC, Stuve O, Piskurich JF, Hauser SL, Oksenberg JR, Zamvil SS. Patarroyo JC, et al. Genes Immun. 2002 Feb;3(1):34-7. doi: 10.1038/sj.gene.6363808. Genes Immun. 2002. PMID: 11857059
In addition, we demonstrate the presence of splice variant at a previously undiscovered intron, accounting for a three nt (TAG) insertion at position 474 that was originally described in association with one of the disease-causing CIITA cDNA mutations in bare lymphocyte …
In addition, we demonstrate the presence of splice variant at a previously undiscovered intron, accounting for a three nt (TAG) insertion at …
Effect of IFN-gamma on expression of HLA in bare-lymphocyte syndrome-like cell line HAJ.
Nowak I, Pochroń B, Kozlowska A, Dubis J, Kuśnierczyk P. Nowak I, et al. Arch Immunol Ther Exp (Warsz). 2001;49(6):453-60. Arch Immunol Ther Exp (Warsz). 2001. PMID: 11814240
We compared HLA antigen expression on new B-lymphoblastoid cell line (B-LCL) HAJ with that on B-LCLs expressing normal HLA levels as well as on B-LCLs derived from bare lymphocyte syndrome (BLS) patients and in vitro mutated B-LCLs of BLS-like phenotype. ...
We compared HLA antigen expression on new B-lymphoblastoid cell line (B-LCL) HAJ with that on B-LCLs expressing normal HLA levels as well as …
Mechanisms of nuclear import and export that control the subcellular localization of class II transactivator.
Cressman DE, O'Connor WJ, Greer SF, Zhu XS, Ting JP. Cressman DE, et al. J Immunol. 2001 Oct 1;167(7):3626-34. doi: 10.4049/jimmunol.167.7.3626. J Immunol. 2001. PMID: 11564775
Previously, we reported that deletion of a carboxyl-terminal nuclear localization signal (NLS) results in the cytoplasmic localization of CIITA and one form of the type II bare lymphocyte syndrome. However, further sequential carboxyl-terminal deletions of CI …
Previously, we reported that deletion of a carboxyl-terminal nuclear localization signal (NLS) results in the cytoplasmic localization of CI …
Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome.
Nekrep N, Geyer M, Jabrane-Ferrat N, Peterlin BM. Nekrep N, et al. Mol Cell Biol. 2001 Aug;21(16):5566-76. doi: 10.1128/MCB.21.16.5566-5576.2001. Mol Cell Biol. 2001. PMID: 11463838 Free PMC article.
One of them, which is located in the ankyrin groove, is severely affected in the FZA patient with the bare lymphocyte syndrome. This genetic disease blocks the expression of MHC II molecules on the surface of B cells. ...
One of them, which is located in the ankyrin groove, is severely affected in the FZA patient with the bare lymphocyte syndr …
Bare lymphocyte syndrome: imaging findings in an adult.
Bernaerts A, Vandevenne JE, Lambert J, De Clerck LS, De Schepper AM. Bernaerts A, et al. Eur Radiol. 2001;11(5):815-8. doi: 10.1007/s003300000706. Eur Radiol. 2001. PMID: 11372614
Bare lymphocyte syndrome (BLS) is a rare primary immune disorder characterized by defective expression of human leukocyte antigen (HLA) on lymphocytes, often resulting in extensive and recurrent multi-organ infections. ...
Bare lymphocyte syndrome (BLS) is a rare primary immune disorder characterized by defective expression of human leukocy …
Molecular genetics of the Bare lymphocyte syndrome.
Masternak K, Muhlethaler-Mottet A, Villard J, Peretti M, Reith W. Masternak K, et al. Rev Immunogenet. 2000;2(2):267-82. Rev Immunogenet. 2000. PMID: 11258423 Review.
Hereditary defects leading to the absence of MHC-II expression result in a severe autosomal recessive immunodeficiency disease called the Bare Lymphocyte Syndrome (BLS), also referred to as MHC-II deficiency. ...
Hereditary defects leading to the absence of MHC-II expression result in a severe autosomal recessive immunodeficiency disease called the …
The bare lymphocyte syndrome and the regulation of MHC expression.
Reith W, Mach B. Reith W, et al. Annu Rev Immunol. 2001;19:331-73. doi: 10.1146/annurev.immunol.19.1.331. Annu Rev Immunol. 2001. PMID: 11244040 Review.
The bare lymphocyte syndrome (BLS) is a hereditary immunodeficiency resulting from the absence of major histocompatibility complex class II (MHCII) expression. ...
The bare lymphocyte syndrome (BLS) is a hereditary immunodeficiency resulting from the absence of major histocompatibil …
Lessons from the bare lymphocyte syndrome: molecular mechanisms regulating MHC class II expression.
Waldburger JM, Masternak K, Muhlethaler-Mottet A, Villard J, Peretti M, Landmann S, Reith W. Waldburger JM, et al. Immunol Rev. 2000 Dec;178:148-65. doi: 10.1034/j.1600-065x.2000.17813.x. Immunol Rev. 2000. PMID: 11213800 Review.
It is thus not surprising that the absence of MHCII expression results in a severe primary immunodeficiency disease (the bare lymphocyte syndrome (BLS)). The genetic defects responsible for BLS do not lie within the MHCII locus, but in genes encoding transcri …
It is thus not surprising that the absence of MHCII expression results in a severe primary immunodeficiency disease (the bare lymp …
T cell immune reconstitution after allogeneic bone marrow transplantation in bare lymphocyte syndrome.
Godthelp BC, Van Eggermond MC, Van Tol MJ, Vossen JM, van den Elsen PJ. Godthelp BC, et al. Hum Immunol. 2000 Sep;61(9):898-907. doi: 10.1016/s0198-8859(00)00156-7. Hum Immunol. 2000. PMID: 11053633
To study the impact of an MHC class II-negative environment on T cell immune reconstitution, we have analyzed the phenotypical and functional characteristics of FACS-sorted cultured CD4(+) and CD8(+) T cells in two Bare Lymphocyte Syndrome (BLS) patients befo …
To study the impact of an MHC class II-negative environment on T cell immune reconstitution, we have analyzed the phenotypical and functiona …
Clinical course of patients with major histocompatibility complex class II deficiency.
Saleem MA, Arkwright PD, Davies EG, Cant AJ, Veys PA. Saleem MA, et al. Arch Dis Child. 2000 Oct;83(4):356-9. doi: 10.1136/adc.83.4.356. Arch Dis Child. 2000. PMID: 10999878 Free PMC article.
The clinical course of 10 children who have been diagnosed with major histocompatibility complex (MHC) class II deficiency (bare lymphocyte syndrome) in the UK over the past eight years is described. ...
The clinical course of 10 children who have been diagnosed with major histocompatibility complex (MHC) class II deficiency (bare l …
Associations and interactions between bare lymphocyte syndrome factors.
DeSandro AM, Nagarajan UM, Boss JM. DeSandro AM, et al. Mol Cell Biol. 2000 Sep;20(17):6587-99. doi: 10.1128/MCB.20.17.6587-6599.2000. Mol Cell Biol. 2000. PMID: 10938133 Free PMC article.
The bare lymphocyte syndrome, a severe combined immunodeficiency due to loss of major histocompatibility complex (MHC) class II gene expression, is caused by inherited mutations in the genes encoding the heterotrimeric transcription factor RFX (RFX-B, RFX5, a …
The bare lymphocyte syndrome, a severe combined immunodeficiency due to loss of major histocompatibility complex (MHC) …
Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.
Nekrep N, Jabrane-Ferrat N, Peterlin BM. Nekrep N, et al. Mol Cell Biol. 2000 Jun;20(12):4455-61. doi: 10.1128/MCB.20.12.4455-4461.2000. Mol Cell Biol. 2000. PMID: 10825209 Free PMC article.
The regulatory factor X (RFX) complex, which contains RFXANK(B), RFXAP, and RFX5, binds to X and S boxes in major histocompatibility complex class II (MHC II) promoters. In the bare lymphocyte syndrome (BLS), which is a human severe combined immunodeficiency, …
The regulatory factor X (RFX) complex, which contains RFXANK(B), RFXAP, and RFX5, binds to X and S boxes in major histocompatibility complex …
Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
Nagarajan UM, Peijnenburg A, Gobin SJ, Boss JM, van den elsen PJ. Nagarajan UM, et al. J Immunol. 2000 Apr 1;164(7):3666-74. doi: 10.4049/jimmunol.164.7.3666. J Immunol. 2000. PMID: 10725724
MHC class II deficiency or bare lymphocyte syndrome is a severe combined immunodeficiency caused by defects in MHC-specific regulatory factors. Fibroblasts derived from two recently identified bare lymphocyte syndrome patients, EBA and FZ …
MHC class II deficiency or bare lymphocyte syndrome is a severe combined immunodeficiency caused by defects in MHC-spec …
Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding.
Gajiwala KS, Chen H, Cornille F, Roques BP, Reith W, Mach B, Burley SK. Gajiwala KS, et al. Nature. 2000 Feb 24;403(6772):916-21. doi: 10.1038/35002634. Nature. 2000. PMID: 10706293
Regulatory factor X (RFX) proteins are transcriptional activators that recognize X-boxes (DNA of the sequence 5'-GTNRCC(0-3N)RGYAAC-3', where N is any nucleotide, R is a purine and Y is a pyrimidine) using a highly conserved 76-residue DNA-binding domain (DBD). DNA-binding defect …
Regulatory factor X (RFX) proteins are transcriptional activators that recognize X-boxes (DNA of the sequence 5'-GTNRCC(0-3N)RGYAAC-3', wher …
Tat competes with CIITA for the binding to P-TEFb and blocks the expression of MHC class II genes in HIV infection.
Kanazawa S, Okamoto T, Peterlin BM. Kanazawa S, et al. Immunity. 2000 Jan;12(1):61-70. doi: 10.1016/s1074-7613(00)80159-4. Immunity. 2000. PMID: 10661406 Free article.
AIDS and the bare lymphocyte syndrome (BLS) are severe combined immunodeficiencies. ...
AIDS and the bare lymphocyte syndrome (BLS) are severe combined immunodeficiencies. ...
Analysis of the defect in IFN-gamma induction of MHC class II genes in G1B cells: identification of a novel and functionally critical leucine-rich motif (62-LYLYLQL-68) in the regulatory factor X 5 transcription factor.
Brickey WJ, Wright KL, Zhu XS, Ting JP. Brickey WJ, et al. J Immunol. 1999 Dec 15;163(12):6622-30. J Immunol. 1999. PMID: 10586057
MHC class II deficiency found in bare lymphocyte syndrome patients results from the absence or dysfunction of MHC class II transcriptional regulators, such as regulatory factor X (RFX) and class II transactivator (CIITA). Understanding the roles of these fact …
MHC class II deficiency found in bare lymphocyte syndrome patients results from the absence or dysfunction of MHC class …
[Sinobronchial syndrome].
Sugiyama Y. Sugiyama Y. Nihon Rinsho. 1999 Sep;57(9):2119-22. Nihon Rinsho. 1999. PMID: 10497416 Review. Japanese.
Many types of SBS are reported including Kartagener's syndrome/primary ciliary dyskinesia, Young's syndrome, bare-lymphocyte syndrome, cystic fibrosis and various types of immunoglobulin deficiency. ...
Many types of SBS are reported including Kartagener's syndrome/primary ciliary dyskinesia, Young's syndrome, bare-lymphocyte …
Discoordinate expression of invariant chain and MHC class II genes in class II transactivator-transfected fibroblasts defective for RFX5.
Peijnenburg A, Van Eggermond MJ, Gobin SJ, Van den Berg R, Godthelp BC, Vossen JM, Van den Elsen PJ. Peijnenburg A, et al. J Immunol. 1999 Jul 15;163(2):794-801. J Immunol. 1999. PMID: 10395672
MHC class II deficiency or bare lymphocyte syndrome is a severe combined immunodeficiency caused by defects in MHC-specific transcription factors. In the present study, we show that fibroblasts derived from a recently identified bare lymphocyte …
MHC class II deficiency or bare lymphocyte syndrome is a severe combined immunodeficiency caused by defects in MHC-spec …
Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome.
Furukawa H, Murata S, Yabe T, Shimbara N, Keicho N, Kashiwase K, Watanabe K, Ishikawa Y, Akaza T, Tadokoro K, Tohma S, Inoue T, Tokunaga K, Yamamoto K, Tanaka K, Juji T. Furukawa H, et al. J Clin Invest. 1999 Mar;103(5):755-8. doi: 10.1172/JCI5335. J Clin Invest. 1999. PMID: 10074494 Free PMC article.
Defects in the TAP2 protein have been reported in two families with HLA class I deficiency, the so-called bare lymphocyte syndrome (BLS) type I. We have, to our knowledge, identified for the first time a splice site mutation in the TAP1 gene of another BLS pa …
Defects in the TAP2 protein have been reported in two families with HLA class I deficiency, the so-called bare lymphocyte s …
A defect in the nuclear translocation of CIITA causes a form of type II bare lymphocyte syndrome.
Cressman DE, Chin KC, Taxman DJ, Ting JP. Cressman DE, et al. Immunity. 1999 Feb;10(2):163-71. doi: 10.1016/s1074-7613(00)80017-5. Immunity. 1999. PMID: 10072069 Free article.
The severe immunodeficiency type II bare lymphocyte syndrome (BLS) lacks class II MHC gene transcription. ...
The severe immunodeficiency type II bare lymphocyte syndrome (BLS) lacks class II MHC gene transcription. ...
RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.
Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM. Nagarajan UM, et al. Immunity. 1999 Feb;10(2):153-62. doi: 10.1016/s1074-7613(00)80016-3. Immunity. 1999. PMID: 10072068 Free article.
The bare lymphocyte syndrome (BLS) is characterized by the absence of MHC class II transcription and humoral- and cellular-mediated immune responses to foreign antigens. ...
The bare lymphocyte syndrome (BLS) is characterized by the absence of MHC class II transcription and humoral- and cellu …
Peptide loading in the endoplasmic reticulum accelerates trafficking of peptide:MHC class II complexes in B cells.
Morkowski S, Raposo G, Geuze HJ, Rudensky AY. Morkowski S, et al. J Biomed Sci. 1999 Jan;6(1):53-63. doi: 10.1007/BF02256424. J Biomed Sci. 1999. PMID: 9933743
The changes in the trafficking of ER-formed complexes result solely from the presence of the tethered peptide, since wild-type class II molecules traffic similarly in bare lymphocyte syndrome cells and in wild-type antigen-presenting cells....
The changes in the trafficking of ER-formed complexes result solely from the presence of the tethered peptide, since wild-type class II mole …
Exceptional stability of the HLA-DQA1*0102/DQB1*0602 alpha beta protein dimer, the class II MHC molecule associated with protection from insulin-dependent diabetes mellitus.
Ettinger RA, Liu AW, Nepom GT, Kwok WW. Ettinger RA, et al. J Immunol. 1998 Dec 1;161(11):6439-45. J Immunol. 1998. PMID: 9834137
Expression of six different HLA-DQ allelic proteins and three different HLA-DR allelic proteins in the bare lymphocyte syndrome cell line, BLS-1, revealed that HLA-DQA1*0102/DQB1*0602 is SDS stable even in the absence of HLA-DM, while other HLA class II molec …
Expression of six different HLA-DQ allelic proteins and three different HLA-DR allelic proteins in the bare lymphocyte synd …
[Bare lymphocyte syndrome].
Kokawa T. Kokawa T. Ryoikibetsu Shokogun Shirizu. 1998;(21 Pt 2):245-6. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9833482 Review. Japanese. No abstract available.
[Genes, polymorphism and function of the HLA gene region].
Buc M. Buc M. Bratisl Lek Listy. 1998 Aug-Sep;99(8-9):447-53. Bratisl Lek Listy. 1998. PMID: 9810769 Slovak.
The polymorphism of the HLA complex has increased--altogether 664 alleles are officially recognised. The genetic defect leading to the bare lymphocyte syndrome was elucidated, too--the mutations in genes coding transcription factors RFX5 and CIITA are respons …
The polymorphism of the HLA complex has increased--altogether 664 alleles are officially recognised. The genetic defect leading to the ba …
[Primary immunologic deficiency by deficiency of HLA class II antigens: nine new Tunisian cases].
Bejaoui M, Barbouche MR, Mellouli F, Largueche B, Dellagi K. Bejaoui M, et al. Arch Pediatr. 1998 Oct;5(10):1089-93. doi: 10.1016/s0929-693x(99)80005-0. Arch Pediatr. 1998. PMID: 9809151 French.
BACKGROUND: Bare lymphocyte syndrome is a rare inherited primary immunodeficiency. ...POPULATION AND METHODS: Over a period of 5 years, we have established the diagnosis of bare lymphocyte syndrome in nine patients who belong to seven dif …
BACKGROUND: Bare lymphocyte syndrome is a rare inherited primary immunodeficiency. ...POPULATION AND METHODS: Over a pe …
The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes.
Gobin SJ, Peijnenburg A, van Eggermond M, van Zutphen M, van den Berg R, van den Elsen PJ. Gobin SJ, et al. Immunity. 1998 Oct;9(4):531-41. doi: 10.1016/s1074-7613(00)80636-6. Immunity. 1998. PMID: 9806639 Free article.
In type III bare lymphocyte syndrome (BLS) patients, defects in the RFX protein complex result in a lack of MHC class II and reduced MHC class I cell surface expression. ...
In type III bare lymphocyte syndrome (BLS) patients, defects in the RFX protein complex result in a lack of MHC class I …
Biochemical characterization of the NF-Y transcription factor complex during B lymphocyte development.
Currie RA. Currie RA. J Biol Chem. 1998 Jul 17;273(29):18220-9. doi: 10.1074/jbc.273.29.18220. J Biol Chem. 1998. PMID: 9660784 Free article.
In this report the biochemical properties of the heterotrimeric NF-Y complex have been characterized during stage-specific B-cell development, and in several class II- mutant B-cell lines, which represent distinct bare lymphocyte syndrome class II genetic com …
In this report the biochemical properties of the heterotrimeric NF-Y complex have been characterized during stage-specific B-cell developmen …
Diminished expression of CD40 ligand may contribute to the defective humoral immunity in patients with MHC class II deficiency.
Nonoyama S, Etzioni A, Toru H, Ruggerie DP, Lewis D, Pollack S, Aruffo A, Yata JI, Ochs HD. Nonoyama S, et al. Eur J Immunol. 1998 Feb;28(2):589-98. doi: 10.1002/(SICI)1521-4141(199802)28:02<589::AID-IMMU589>3.0.CO;2-J. Eur J Immunol. 1998. PMID: 9521069 Free article.
Major histocompatibility complex (MHC) class II deficiency (bare lymphocyte syndrome, BLS) is a rare primary immunodeficiency classified as a subgroup of severe combined immunodeficiency. ...
Major histocompatibility complex (MHC) class II deficiency (bare lymphocyte syndrome, BLS) is a rare primary immunodefi …
Introduction of exogenous class II trans-activator in MHC class II-deficient ABI fibroblasts results in incomplete rescue of MHC class II antigen expression.
Peijnenburg A, Gobin SJ, van Eggermond MC, Godthelp BC, van Graafeiland N, van den Elsen PJ. Peijnenburg A, et al. J Immunol. 1997 Sep 15;159(6):2720-7. J Immunol. 1997. PMID: 9300692
Previously, we have shown that fibroblasts established from type III bare lymphocyte syndrome patient ABI are characterized by the absence of MHC class II gene expression and a strongly reduced amount of MHC class I transcripts. ...
Previously, we have shown that fibroblasts established from type III bare lymphocyte syndrome patient ABI are character …
Detection of donor-derived Langerhans cells in MHC class II immunodeficient patients after allogeneic bone marrow transplantation.
Emile JF, Haddad E, Fraitag S, Canioni D, Fischer A, Brousse N. Emile JF, et al. Br J Haematol. 1997 Aug;98(2):480-4. doi: 10.1046/j.1365-2141.1997.2293046.x. Br J Haematol. 1997. PMID: 9266954 Free article.
We retrospectively studied the phenotype of LC in the skin of eight children with MHC class II deficiency (bare lymphocyte syndrome) after allogeneic bone marrow transplantation (BMT). ...
We retrospectively studied the phenotype of LC in the skin of eight children with MHC class II deficiency (bare lymphocyte …
Correction of defective expression in MHC class II deficiency (bare lymphocyte syndrome) cells by retroviral transduction of CIITA.
Bradley MB, Fernandez JM, Ungers G, Diaz-Barrientos T, Steimle V, Mach B, O'Reilly R, Lee JS. Bradley MB, et al. J Immunol. 1997 Aug 1;159(3):1086-95. J Immunol. 1997. PMID: 9233601
Retrovirus-mediated gene transfer was used to restore expression to MHC class II-negative patient cells from complementation group A(II) of MHC class II immunodeficiency or bare lymphocyte syndrome (BLS). The cells of these patients do not transcribe MHC clas …
Retrovirus-mediated gene transfer was used to restore expression to MHC class II-negative patient cells from complementation group A(II) of …
Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex.
Moreno CS, Rogers EM, Brown JA, Boss JM. Moreno CS, et al. J Immunol. 1997 Jun 15;158(12):5841-8. J Immunol. 1997. PMID: 9190936
Both the p41 and p36 subunits were absent in immunoprecipitations of RFX5 from lysates of independently established B cell lines from bare lymphocyte syndrome complementation groups B and D. Together, these results suggest that RFX complex assembly is require …
Both the p41 and p36 subunits were absent in immunoprecipitations of RFX5 from lysates of independently established B cell lines from bar …
Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5.
Scholl T, Mahanta SK, Strominger JL. Scholl T, et al. Proc Natl Acad Sci U S A. 1997 Jun 10;94(12):6330-4. doi: 10.1073/pnas.94.12.6330. Proc Natl Acad Sci U S A. 1997. PMID: 9177217 Free PMC article.
Two of the genes defective in the five complementation groups identified in the class II-negative bare lymphocyte syndrome or corresponding laboratory mutants have been cloned. ...
Two of the genes defective in the five complementation groups identified in the class II-negative bare lymphocyte syndrome …
Presentation of abundant endogenous class II DR-restricted antigens by DM-negative B cell lines.
Kovats S, Whiteley PE, Concannon P, Rudensky AY, Blum JS. Kovats S, et al. Eur J Immunol. 1997 Apr;27(4):1014-21. doi: 10.1002/eji.1830270431. Eur J Immunol. 1997. PMID: 9130658
Two distinct classes of DM-negative cells, T2 cells generated by in vitro mutagenesis and lines derived from bare lymphocyte syndrome (BLS) patients, were able to present epitopes derived from self proteins. ...
Two distinct classes of DM-negative cells, T2 cells generated by in vitro mutagenesis and lines derived from bare lymphocyte …
Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.
Bontron S, Steimle V, Ucla C, Eibl MM, Mach B. Bontron S, et al. Hum Genet. 1997 Apr;99(4):541-6. doi: 10.1007/s004390050403. Hum Genet. 1997. PMID: 9099848
Congenital MHC class II deficiency or bare lymphocyte syndrome (BLS; McKusick 209920) is caused by defects in trans-acting regulatory factors that control MHC class II expression and is therefore a disease of gene regulation. ...
Congenital MHC class II deficiency or bare lymphocyte syndrome (BLS; McKusick 209920) is caused by defects in trans-act …
166 results