title: Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent.
authors.affiliation: Laboratory of Immunoregulation, National Institute for Allergy and Infectious Diseases, Washington, DC, USA.|Division of Allergy & Immunology, Children's National Health System, 111 Michigan Ave NW, M7745A, Washington, DC, 20010, USA.
authors.forename: Katherine
authors.initials: K
authors.lastname: Clarridge
authors.affiliation: Department of Laboratory Medicine, Children's National Health System, Washington, DC, USA.|Department of Microbiology, Immunology, and Tropical Medicine, George Washington University, Washington, DC, USA.
authors.forename: David
authors.initials: D
authors.lastname: Leitenberg
authors.affiliation: Division of Allergy & Immunology, Children's National Health System, 111 Michigan Ave NW, M7745A, Washington, DC, 20010, USA.
authors.forename: Brett
authors.initials: B
authors.lastname: Loechelt
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes, Paris, France.
authors.forename: Capuchine
authors.initials: C
authors.lastname: Picard
authors.affiliation: Division of Allergy & Immunology, Children's National Health System, 111 Michigan Ave NW, M7745A, Washington, DC, 20010, USA. MKeller@childrensnational.org.
authors.forename: Michael
authors.initials: M
authors.lastname: Keller
mesh_terms: D016026:Bone Marrow Transplantation; D046528:Chimerism; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D006680:HLA Antigens / Q000235:genetics / Q000378:metabolism*; D000949:Histocompatibility Antigens Class II / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000276:immunology / Q000378:metabolism*; D008297:Male; D008800:Mexico; D010375:Pedigree; D011020:Pneumonia, Pneumocystis / Q000175:diagnosis* / Q000188:drug therapy; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D006680:HLA Antigens; D000949:Histocompatibility Antigens Class II; C117892:RFXANK protein, human; D014157:Transcription Factors