[CIS PIDD] [cis-pidd] GATA 2 mutation and elevated B12 and low HDL

[CIS-PIDD]

These patients are at very high risk for leukemias. I would work her up for leukemia and even consider stem cell transplant. 

Jennifer Domm, MD, MSCI
TriStar Centennial
Pediatric Hematology Oncology
Nashville, TN

Sent from my iPad

> On Sep 14, 2017, at 6:39 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> Dear colleagues, 
> 
> 
> We have recently seen a 17  year old patient with GATA 2 mutation presenting with pancytopenia. Her Vit B12 is 1500 (ref 180 - 914 pg/mL ) and HDL is 20 ( ref 35.0 - 60.0 mg/dL). I am aware that elevated Vit B12 and low HDL are associated of ALPS ( I think this is why these were ordered to start with). She doesn't fit criteria for ALPS. Any experience with also being associated with GATA 2 mutation? 
> 
> 
> 
> Rofida Nofal, MD
> 
> Pediatric Hematology Oncology Fellow
> 
> UCSF Benioff Children's Hospital Oakland, CA, USA
> 
> 
> 
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