Table 2.

Differential diagnosis of hypocellular marrow failure

AcquiredInherited
aAA Classical IBMFS/MMP
Fanconi anemia
Short telomere syndromes
Shwachman-Diamond Syndrome
GATA2 deficiency
SAMD9/SAMD9L disorders 
Anorexia nervosa 
Hypocellular myelodysplastic syndrome Inborn errors of immunity (eg, X-linked lymphoproliferative disorder) 
Medications/toxins  
AcquiredInherited
aAA Classical IBMFS/MMP
Fanconi anemia
Short telomere syndromes
Shwachman-Diamond Syndrome
GATA2 deficiency
SAMD9/SAMD9L disorders 
Anorexia nervosa 
Hypocellular myelodysplastic syndrome Inborn errors of immunity (eg, X-linked lymphoproliferative disorder) 
Medications/toxins  

This table is not exhaustive and is intended to capture the more commonly encounter entities that can present as aplastic anemia. In our clinical experience, the IBMFSs/MMPs listed here are not always characterized by hypocellular marrows. Gelatinous degradation of the bone marrow also may be seen in anorexia nervosa.

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