[CIS PIDD] [cis-pidd] An infant w chronic diarrhea and novel PIK3Cd mutation.

[CIS-PIDD]

Dear all,

First, I wish everyone a wonderful Holiday Season and a Happy New Year!

We are following a 2-month-old boy who was admitted at 1 month of age with
fever x 1 day and diarrhea since birth. Sepsis work-up was negative. Fever
resolved within a couple days (likely due to dehydration) but diarrhea has
persisted requiring TPN. He has persistent anion gap metabolic acidosis. He
has been in the hospital since 1 month of age and has not had any
infections so far (4 wks since admission). However, he developed ischemic
stroke, seizures due to stroke, and central-line associated thrombosis.

WES revealed a de novo heterozygous mutation in PIK3CD (c.2564 T>G; p.L855R
) which is reported as "likely pathogenic".

T, B, NK cell counts as well as QuIgs are normal (present IgA and IgM).
Mitogen response is pending.

We could not find this mutation in the literature.

Since patient is too young to determine his clinical picture how can we
find out if this is a GOF or LOF mutation?
- Sanger sequence the PIK3CD gene (to evaluate intronic mutation or
deletion on the other allele)?
- Treg counts?
- Any functional studies? Which lab?
- any other suggestions about diagnosis and treatment?

As always, I appreciate your suggestions.

Yeshim


Yesim Yilmaz Demirdag, MD
Columbia University Medical Center
New York, NY
(212) 305 2300

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