Table 1.

IBMFS and risks/surveillance impacting HCT timing

DisorderMDS/AML riskSolid tumor riskOther surveillance
Fanconi anemia  
Dyskeratosis congenita/ telomere diseases Immune deficiency
Liver disease
Lung disease 
Shwachman-Diamond syndrome +/– Immune deficiency 
Diamond Blackfan anemia +/– +/– Iron overload 
GATA2 deficiency  Immune deficiency 
SAMD9/SAMD9L syndromes  Immune deficiency 
RUNX1   
ANKRD26   
ERCC6L2   
MECOM   
DDX41   
DisorderMDS/AML riskSolid tumor riskOther surveillance
Fanconi anemia  
Dyskeratosis congenita/ telomere diseases Immune deficiency
Liver disease
Lung disease 
Shwachman-Diamond syndrome +/– Immune deficiency 
Diamond Blackfan anemia +/– +/– Iron overload 
GATA2 deficiency  Immune deficiency 
SAMD9/SAMD9L syndromes  Immune deficiency 
RUNX1   
ANKRD26   
ERCC6L2   
MECOM   
DDX41   

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