[CIS PIDD] [cis-pidd] G6PC3

[CIS-PIDD]

Dear all
Would appreciate comments from those who follow patients with G6PC3 in reference to use of prophylactic antibiotics and long term outcomes of venous malformations

I recently started seeing a girl who has a novel hemizygous mutation ( c.911dupC;pQ305fs) in G6PC3

She had a hx of recurrent OM and skin abscesses. Neutropenia was only noted during an admission for Strep Pneumo sepsis, necrotizing pneumonia, respiratory failure necessitating ECMO resulting in a 5 mo hospital admission. Note her  admission CBC was not neutropenic. Neutropenia was noted as she got better.  She is extremely small and has the venous malformations described in literature

Immune studies now only significant for nonprotective titers to HIB and 4/14 protective pneumococcal serotypes (don't know serotype that caused the invasive disease). I gave her HIB and Prevnar13 and she has excellent protective titers now ( HIB>200mcg/ml and Pneumococcal 13/14 serotypes, most >15mcg/ml)

She is not neutropenic on G-CSF. Literature suggest these children respond nicely to G-CSF. She is only 4 years and has mild bronchiectasis in the right middle lobe and inferior aspect of the right upper lobe along with small cystic changes in both lower lobes.

Thank you
Maite

Maite de la Morena, MD
Professor of Pediatrics and Internal Medicine
Division of Allergy and Immunology


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UT Southwestern


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