Associated Papers
New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.
Li X et al.
Immunologic Research, 2024
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
Mousavi Khorshidi MS et al.
Journal of Clinical Immunology, 2023
Haploidentical CD3+ TCR αβ/CD19+-depleted HSCT for MHC class II deficiency and persistent SARS-CoV-2 pneumonitis.
Ramanathan S et al.
The Journal of Allergy and Clinical Immunology. Global, 2023
A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review.
Cai YQ et al.
Open Forum Infectious Diseases, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Persisting enteropathy and disturbed adaptive mucosal immunity due to MHC class II deficiency.
Posovszky C et al.
Clinical Immunology (orlando, Fla.), 2019
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile.
Al-Herz W et al.
Journal of Clinical Immunology, 2013
Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2.
Long AB et al.
Immunogenetics, 2005
The ankyrin repeat as molecular architecture for protein recognition.
Mosavi LK et al.
Protein Science : a Publication of the Protein Society, 2004
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
Wiszniewski W et al.
Immunogenetics, 2003
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