Table 2.
Mutation Sites of the Related Literature in MDS Patients with MonoMAC Syndrome
| Case | Study | Age(Years)/Gender | Pathogenic Specimens Type | Genotyping Specimens | Mutation and Site | Prognosis |
|---|---|---|---|---|---|---|
| 1 | Portich et al,20207 | 16/F | Unreported | Unreported | Exon6: Chr3:128200759C>T (or alternatively c.1.046G>A), p.Cys349Tyr | Unreported |
| 2 | Mendes-de-Almeida,et al,20198 | 43/M | (NTM)Blood culture and arthrocentesis | PB | Exon6: c.1061 C > T; p.T354 M | Died(unknow) |
| 3 | Simonis,et al,20189 | 17/F | (Mycobacterium) Skin secretions | BM | Exon6: 1045T>G C349G | Alive(HSCT) |
| 4 | Damian,et al,201810 | 19/M | (NTM)clinical diagnosis | PB | Exon6: p.C349R | Alive(HSCT) |
| 5 | Sologuren, et al,201811 | 54/M | (H1N1 and Klebsiella pneumoniae)blood test | Unknow | Exon7:R396L | Died(infection) |
| 6 | Yamamoto,et al,201812 | 18/M | Unreported | BM and control cells (buccal swab) | Exon4: p.R230Hfs*44 | Alive(HSCT) |
| 7 | Eguchi,et al,201713 | 14/M | (Mycobacterium kansasii)BM and peripheral blood cultures | Unknow | Exon6: c.1077_1078insA | Alive(HSCT) |
| 8 | Vila,et al,201614 | 24/F | (NTM)Blood,sputum,BAL cultures | PB | Exon5: (c.1009C>T, p.R337X) | Died(infection) |
| 9 | Ganapathi, et al,201615 | 39/M | (MAC) unreported | PB & BM | Exon7: c.1192C>T | Unknow |
| 10 | Ganapathi, et al,201615 | 44/F | (MAC) unreported | PB & BM | Exon6: c.1061C>T | Unknow |
| 11 | Ganapathi, et al,201615 | 33/M | (MAC) unreported | PB & BM | Exon4: c.243_244delAinsGC | Unknow |
| 12 | Ganapathi, et al,201615 | 22/M | (M. fortuitum) unreported | PB & BM | Exon7: c.1192C>T | Unknow |
| 13 | Ganapathi, et al,201615 | 14/F | (MAC) unreported | PB & BM | Exon7: c.1186C>T | Unknow |
| 14 | Ganapathi, et al,201615 | 32/M | (MAC) unreported | PB & BM | Exon6: c.1061C>T | Unknow |
| 15 | Ganapathi, et al,201615 | 15/M | (MAC) unreported | PB & BM | Exon4: c.769_778dup | Unknow |
| 16 | Ganapathi, et al,201615 | 33/M | (MAC) unreported | PB & BM | Exon7: c.1192C>T | Unknow |
| 17 | Ganapathi, et al,201615 | 45/F | (MAC) unreported | PB & BM | Exon6: c.1018–1G>A | Unknow |
| 18 | Ganapathi, et al,201615 | 24/M | (MAC) unreported | PB & BM | Exon7: c.1186C>T | Unknow |
| 19 | Ganapathi, et al,201615 | 17/F | (MAC) unreported | PB & BM | Exon6: c.1099insG | Unknow |
| 20 | Ganapathi, et al,201615 | 27/M | (M. kansasii) unreported | PB & BM | Exon6: c.1083_1094del12 | Unknow |
| 21 | Ganapathi, et al,201615 | 26/F | (M. kansasii) unreported | PB & BM | Exon5: c.941_951dup | Unknow |
| 22 | Ishida, et al,20126 | 19/F | (Severe varicella and/or Salmonella infection) unreported | BM | Exon7: 1187 G > A | Unknow |
| 23 | Our case | 65/F | (M. kansasii) peripheral blood | BM | Exon6: c.1126> T; p.k376del | Died(infection) |
Abbreviations: MAC, M. avium intracellulare complex; BM, bone marrow; PB, peripheral blood.