Katherine Clarridge David Leitenberg Brett Loechelt Capuchine Picard Michael Keller
10.1007/s10875-015-0219-4
J Clin Immunol
2016 Jan;36(1):4-5.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26634365/
Bone Marrow Transplantation HLA Antigens / metabolism Histocompatibility Antigens Class II / metabolism Lymphocytes / metabolism Pneumonia, Pneumocystis / diagnosis Severe Combined Immunodeficiency / diagnosis Transcription Factors / genetics
Bone Marrow Transplantation HLA Antigens / metabolism Histocompatibility Antigens Class II / metabolism Lymphocytes / metabolism Pneumonia, Pneumocystis / diagnosis Severe Combined Immunodeficiency / diagnosis Transcription Factors / genetics Case Reports Letter Research Support, Non-U.S. Gov't Chimerism Codon, Nonsense / genetics DNA Mutational Analysis DNA-Binding Proteins HLA Antigens / genetics Histocompatibility Antigens Class II / genetics Humans Infant Lymphocytes / immunology Male Mexico Pedigree Pneumonia, Pneumocystis / drug therapy Severe Combined Immunodeficiency / therapy Codon, Nonsense DNA-Binding Proteins HLA Antigens Histocompatibility Antigens Class II RFXANK protein, human Transcription Factors Bare lymphocyte syndrome 2
PMC4720537
26634365
Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent
2016