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

[CIS-PIDD]

Agree with Jen.  I think it is still really hard to know when to consider bone marrow transplant for these patients as they are generally living longer with better antimicrobials and recognition of infections, and we still don’t know how much of the phenotype is corrected by transplant.  But with an early more severe course, I would also consider transplant  if a good match is available.
Happy new year all!!
Alexandra


--
Alexandra Freeman MD
Laboratory of Clinical Infectious Diseases
NIAID, NIH
NIH, Bldg 10,Room 12C103
9000 Rockville Pike
Bethesda, MD  20892
Phone 301-594-9045
Fax 301-496-0773
freemaal at mail.nih.gov<mailto:freemaal at mail.nih.gov>

Notice: This communication may contain privileged or other confidential
information.
If you are not the intended recipient or believe that you have received
this communication in error,
please do not print, copy, retransmit, disseminate or otherwise use the
information.
Please indicate to the sender that you have this e-mail in error and
delete the copy you received.



From: <cis-pidd at lyris.dundee.net> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Date: Monday, January 1, 2018 at 9:55 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Subject: Re: [cis-pidd] Bone marrow transplant in STAT3 deficiency

Hi!
Happy new year everyone!

I think in a case as severe as this early in life, I would favor transplant especially if there was a well matched donor available.

Jen Heimall
Sent from my iPhone

On Jan 1, 2018, at 9:13 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
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/
Aster CMI Hospital, No 43/2, International Airport Rd, Sahakara Nagar, Bengaluru -560 092, Karnataka
 (Book appointment - 08043420100)


---

You are currently subscribed to cis-pidd as: heimallj at email.chop.edu<mailto:heimallj at email.chop.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396616.cc2f3c8717a4b8dcca99e88dbb0e03cd&n=T&l=cis-pidd&o=4719752

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-4719752-96396616.cc2f3c8717a4b8dcca99e88dbb0e03cd at lyris.dundee.net<mailto:leave-4719752-96396616.cc2f3c8717a4b8dcca99e88dbb0e03cd at lyris.dundee.net>

---

You are currently subscribed to cis-pidd as: freemaal at mail.nih.gov<mailto:freemaal at mail.nih.gov>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396541.c472669f536c07e3a3b6fbb963dd577e&n=T&l=cis-pidd&o=4719767

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-4719767-96396541.c472669f536c07e3a3b6fbb963dd577e at lyris.dundee.net<mailto:leave-4719767-96396541.c472669f536c07e3a3b6fbb963dd577e at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4721161
or send a blank email to leave-4721161-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20180102/15fc2cb9/attachment-0001.html>