TY - JOUR
T1 - Mendelian susceptibility to mycobacterial disease in Egyptian children
AU - Galal, Nermeen
AU - Boutros, Jeannette
AU - Marsafy, Aisha
AU - Kong, Xiao Fei
AU - Feinberg, Jacqueline
AU - Casanova, Jean Laurent
AU - Boisson-Dupuis, Stéphanie
AU - Bustamante, Jacinta
PY - 2012
Y1 - 2012
N2 - Background: Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare disorder with impaired immunity against mycobacterial pathogens. Reported MSMD etiologies highlight the crucial role of the Interferon gamma /Interleukin 12 (IFN-y/ IL-12) axis and the phagocyte respiratory burst axis. Purpose: Screen patients with possible presentations for MSMD. Methods: Patients with disseminated BCG infection following vaccination, atypical mycobacterial infections or recurrent tuberculosis infections were recruited from the Primary Immune Deficiency Clinic at Cairo University Specialized Pediatric Hospital, Egypt and immune and genetic laboratory investigations were conducted at Human Genetic of Infectious Diseases laboratory in Necker Medical School, France from 2005-2009. IFN-y level in patient's plasma as well as mutations in the eight previously identified MSMD-causing genes were explored. Results: Nine cases from eight (unrelated) kindreds were evaluated in detail. We detected a high level of IFN-y in plasma in one patient. Through Sanger sequencing, a homozygous mutation in the IFNGR1 gene at position 485 corresponding to an amino acid change from serine to phenylalanine (S485F), was detected in this patient. Conclusion: We report the first identified case of MSMD among Egyptian patients, including in particular a new IFNGR1 mutation underlying IFN-yR1 deficiency. The eight remaining patients need to be explored further. These findings have implications regarding the compulsory Bacillus.
AB - Background: Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare disorder with impaired immunity against mycobacterial pathogens. Reported MSMD etiologies highlight the crucial role of the Interferon gamma /Interleukin 12 (IFN-y/ IL-12) axis and the phagocyte respiratory burst axis. Purpose: Screen patients with possible presentations for MSMD. Methods: Patients with disseminated BCG infection following vaccination, atypical mycobacterial infections or recurrent tuberculosis infections were recruited from the Primary Immune Deficiency Clinic at Cairo University Specialized Pediatric Hospital, Egypt and immune and genetic laboratory investigations were conducted at Human Genetic of Infectious Diseases laboratory in Necker Medical School, France from 2005-2009. IFN-y level in patient's plasma as well as mutations in the eight previously identified MSMD-causing genes were explored. Results: Nine cases from eight (unrelated) kindreds were evaluated in detail. We detected a high level of IFN-y in plasma in one patient. Through Sanger sequencing, a homozygous mutation in the IFNGR1 gene at position 485 corresponding to an amino acid change from serine to phenylalanine (S485F), was detected in this patient. Conclusion: We report the first identified case of MSMD among Egyptian patients, including in particular a new IFNGR1 mutation underlying IFN-yR1 deficiency. The eight remaining patients need to be explored further. These findings have implications regarding the compulsory Bacillus.
UR - http://www.scopus.com/inward/record.url?scp=84875980193&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84875980193&partnerID=8YFLogxK
U2 - 10.4084/MJHID.2012.033
DO - 10.4084/MJHID.2012.033
M3 - Article
C2 - 22708048
AN - SCOPUS:84875980193
SN - 2035-3006
VL - 4
JO - Mediterranean Journal of Hematology and Infectious Diseases
JF - Mediterranean Journal of Hematology and Infectious Diseases
IS - 1
M1 - e2012033
ER -