[CIS PIDD] [cis-pidd] 9 month-old girl with a novel STAT1 mutation

[CIS-PIDD]

Dear all,

I am following a 9-month-old Moroccan girl who initially presented with
recurrent genital and oral candida infection and a labial abscess at 3
weeks of age. She eventually developed a rectovaginal fistula requiring
multiple surgeries. Initial immunologic evaluation when I first saw her at
4 months of age was unremarkable.
At that time I also diagnosed her with FPIES to cow's milk.
She did well on prophylactic itraconazole without any recurrence of genital
or oral thrush.

She had tolerated 1st dose of rota virus vaccine at 10 wks of age, but
developed severe diarrhea about 10 days after the second dose (which was
given by mistake).
Diarrhea persisted and became very severe requiring gut rest and TPN at age
6 months. Stool pcr study has been negative for rotavirus. She was admitted
because of severe dehydration due to diarrhea (up to 60 watery BMs
everyday). We switched to IV fluconazole but within a couple of days her
LFTs increased to > 1000 ! So we had to stop it.

By that time we received WES report which revealed a de novo heterozygous
mutation in STAT1 gene ( Variant: c.1627T >C Protein Change: p.Cys543Arg).
The functionality of this mutation was tested at Dr. Casanova's lab by GAS
reporter assay which showed that this is a GOF mutation.

She went home on nystatin, TPN, and NPO. She had a PICC line. However, 10
days later she was taken to ER and diagnosed with septic shock.  PICC line
culture grew candida parapsilosis. She responded to Amphothericin B very
quickly. She is currently on Amphothericin B and TPN and doing well.
However, she still has diarrhea when she takes anything by mouth.

Intestinal pathology was nonspecific (intraepithelial lymphocytes, mild
chronic inflammation, etc).
Liver biopsy showed chronic inflammation- could be autoimmune, not clear.

At this time, I really don't want to refer her for HSCT because of the
recent review which was not encouraging.

Is there any biologics we can try for this patient (such as JAK inhibitors)
for her enteropathy ? Anyone has any experience?

Thanks in advance!

Yeshim



*Yesim Yilmaz Demirdag, MD*
*Assistant Professor of Pediatrics *
*Columbia University Medical Center*
*Division of Allergy, Immunology and Rheumatology*
*3959 Broadway CHC7*
*New York, NY 10032*
*phone: (212) 305 2300*

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