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

[CIS-PIDD]

Thanks for your reply! Yes, this the plan, but wanted to see if these lab finding are common among this group of patients.

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On Sep 14, 2017, at 5:50 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

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

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On Sep 14, 2017, at 6:39 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto: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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