[CIS PIDD] [cis-pidd] Bone marrow transplant in STAT3 deficiency

[CIS-PIDD]

Dear all,

A very happy new year!

I need your valuable inputs in the management of this young girl.

8 months old girl child presented with the following background-

At 2 months of age - severe pneumonia - ARDS - ventilated for 10 days.
Blood CMV PCR load was high and she was treated with ganciclovir and
multiple antimicrobials. Had a prolonged hospital stay (34 days). She also
had liver dysfunction, that improved following therapy.

>From 5 months onwards, recurrent episodes of oral thrush.
She is gaining weight, but less than the 3rd centile.

Investigations showed high IgE and marked eosinophilia

Mutation analysis - Heterozygous mutation in STAT3 gene ------
chr17:40474492C>T c.1909G>A p.Val637Met.

Diagnosis - AD HIES


Children with STAT3 deficiency have been conventionally managed with
antibiotic + antifungal prophylaxis. There is upcoming literature on bone
marrow transplant (BMT) in STAT3 deficiency, but only a few reports.

How does one decide on BMT in STAT3 deficient children? My concern in the
index case is the age of presentation and occurrence of CMV infection,
which makes me wonder if the child has serious cellular immune deficiency.

Kindly advise


Warm 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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