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Abstract(Please copy/paste the abstract send to the congress) : |
Defects of neutrophil function and/or differentiation, defects of motility, and defects of respiratory burst are the main sub-classification of phagocytes defects, while Mendelian susceptibility to mycobacterial diseases (MSMD) should also be considered as a progressing area.
Severe congenital neutropenia (ELANE, GFI1, HAX1, G6PC3, VPS45, etc), cyclic neutropenia, glycogen storage disease type 1b, p14 deficiency, Barth syndrome, Cohen syndrome, and Clericuzio syndrome poikiloderma with neutropenia are primary immunodeficiency diseases (PIDs) with neutrophil function/differentiation defects, while leukocyte adhesion deficiency (LAD types I-III), Rac2 deficiency, β-actin deficiency, localized juvenile periodontitis, Papillon–Lefèvre syndrome, specific granule deficiency, and Shwachman–Diamond syndrome are classified in group of motility defects. Chronic granulomatous disease (CYBB, CYBA, NCF1, NCF2, NCF4) is the prototype of defects of respiratory burst. MSMD is another group of PIDs that predisposes individuals to mycobacterium. Mutations in several gene loci have been detected for MSMD, including IL-12RB1, IFNGR1, IFNGR2, IL12B, STAT1, CYBB, IRF8, and ISG15. GATA2 deficiency (Mono MAC Syndrome), pulmonary alveolar proteinosis along with AR form of IRF8 deficiency are other diseases that have been classified as phagocytes defects.
Long-term follow-up of patients with known gene mutation(s) could give us more insight into the pathophysiology of diseases, while the clinical description of patients could also help us to have better understanding on nature of these diseases. |