[CIS PIDD] [cis-pidd] STAT1 gain of function defect - Is transplant necessary in all ?
CIS-PIDD
cis-pidd at lists.clinimmsoc.org
Sat Sep 16 02:11:19 EDT 2017
Dear all
Kindly provide your valuable inputs in the following case -
20 month old baby
Unwell from the age of 2 months - repeated episodes of oral candidiasis.
Developed disseminated CMV disease (involving liver, marrow, colon) at the
age of 8 months. She was treated with valganciclovir, anti tubercular
therapy and broad spectrum antibiotics along with anti -fungals. She has
been on IVIg infusions for the past 1 year. Repeat CMV load - negative.
Currently, she is doing fine - with no new infections for the past 8 months
and is maintained on monthly IVIg, co-trimoxazole and fluconazole
prophylaxis.
Genetic studies have confirmed STAT1 mutation --------*- heterozygous
mutation in exon 15 c.1260T>T/A (p.Asn420Lys).* It thus appears to be *STAT1
gain of function defect with AD inheritance. *
My queries are
1) How long do I continue IVIg infusions?
2) How long do we give antibiotic and antifungal prophylaxis?
3) Should I periodically monitor CMV viral copies?
4) Is stem cell transplant indicated? As the child is growing well, I am
concerned whether we should offer a stem cell transplant? She has a
sibling and hence a possibility of matched sibling donor....
Kindly opine
Regards
Sagar
*Dr.Sagar Bhattad*
MD Pediatrics, DM Pediatric Clinical Immunology and Rheumatology (PGI, CHD)
*Giannina Gaslini Institute, Italy (Observership in Rheumatology)*
Consultant, Pediatric Immunologist and Rheumatologist, ASTER CMI Hospitals,
Bengaluru
*http://www.pediatricimmunologist.in/
<http://www.pediatricimmunologist.in/>*
*Aster CMI Hospital, No 43/2, International Airport Rd, Sahakara Nagar,
Bengaluru -560 092, Karnataka*
* (**Book appointment - 08043420100)*
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