The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases  Saleh Al-Muhsen, MD, Jean-Laurent Casanova, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 122, Issue 6, Pages 1043-1051 (December 2008) DOI: 10.1016/j.jaci.2008.10.037 Copyright © 2008 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Geographical origin of the kindreds with genetic defects of MSMD. Patients were diagnosed from 44 countries on 6 different continents: Africa (Algeria, Cameroon, Morocco, Tunisia); North America (Canada and United States); South America (Argentina, Brazil, Canada, Chile, French West Indies, Mexico, Venezuela); Asia (China, India, Indonesia, Iran, Israel, Japan, Lebanon, Malaysia, Pakistan, Qatar, Saudi Arabia, Sri Lanka, Taiwan, Turkey); Europe (Belgium, Bosnia, Cyprus, France, Germany, Greece, Italy, Malta, The Netherlands, Norway, Portugal, Poland, Slovakia, Spain, Sweden, United Kingdom, Ukraine); and Oceania (Australia). Journal of Allergy and Clinical Immunology 2008 122, 1043-1051DOI: (10.1016/j.jaci.2008.10.037) Copyright © 2008 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 MSMD-causing genes in the IL-12/23-IFN-γ pathway. Schematic representation of host immune defense against mycobacterial infection. Proteins for which mutations in the corresponding genes have been identified and associated with susceptibility to mycobacterial diseases are shown in red. Allelic heterogeneity of the 6 genes results in the distinct 13 genetic disorders. The IL12-23/IFN-γ is crucial for protective immunity to mycobacterial infection in human beings. TYK-2, Tyrosine kinase 2; JAK2, Janus kinase 2. Journal of Allergy and Clinical Immunology 2008 122, 1043-1051DOI: (10.1016/j.jaci.2008.10.037) Copyright © 2008 American Academy of Allergy, Asthma & Immunology Terms and Conditions