[CIS PIDD] [cis-pidd] IPEX with AML

[CIS-PIDD]

Mehdi,

I am not aware of any other reported cases of AML in IPEX – we have not seen it in the cohort that we have evaluated.  The FOXP3 mutation in this patient is known to be pathogenic  and is often associated with a somewhat milder phenotype.  There is fairly good data that suggest that approximately 5% of patients with one identifiable genetic defect may have a second pathogenic genetic defect and there are published cases of immunodeficient patients who have loss-of-function mutations in two different pidd genes.  The phenotypes are often some combination of the two defects.  Maybe your patient is one of these.

Would seriously consider BMT.

Best,
T


Troy R. Torgerson, MD PhD

Associate Professor of Pediatrics
Divisions of Immunology/Rheumatology
Director, Immunology Diagnostic Lab (IDL)
Co-Director, Non-Malignant Transplant Program
University of Washington and Seattle Children's Hospital

Address:
Seattle Children's Research Institute
1900 9th Ave., C9S-7
Seattle, WA  98101-1304

Phone:  (206) 987-7317
Fax:  (206) 987-7310
Email:  troy.torgerson at seattlechildrens.org

IDL lab:  www.seattlechildrens.org/idl



From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Wednesday, October 7, 2015 at 12:07 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] IPEX with AML

Dear Colleagues
I am taking care of a 6 years old boy with IPEX who recently developed
Acute Myeloid Leukemia  (AML) .
My questions please:
How frequent  do you see  AML in patients with IPEX? And is there any special  chemo therapy for them pre BMT?
In summary :
The boy  is 5 1/2 years old   from non consanguinity parents .
Ten months back ,I was asked to see him due to his localized itching in the sexual area , the severity of itching lead to removal of the skin and separation of muscles   , although  there was no skin left, he was still itching  and his fingers especially in Left hands were enlarged ( Not clubbing) + elevation of IgE, IgG especially IgG4.
His PMH : he was doing fine till age of 2 years , suddenly he refused to eat ,lost interaction , abnormal walk , 2 weeks later he developed fever with itchy rash  all over , the lesion improved , however , his itching continued .later on he developed waddling gaite , improved later on .
He was seen in a c medical Center in the US  in 2012 where noticed to have:
Testes enlargement with normal FH,LH and bone age.
Immunology evaluation : Increased IgE and IgG4, switched memory B cells normal, HIGE syndrome was excluded . polyclonal IgG and IgG4, his I gE ranged 3000-9000 .
The genetic study  (WES)   showed : missense variant in R397Q mutation in the FOXP3 gene
However , the child does not have Diabetes, diarrhea or any other signs of IPEX and he is 6 years old now  .
I saw him in my clinic  two weeks back with severe   bilateral cervical lymphadenopathy ,His viral study ( CMV,EBV and Adeno ) PCR  and CBC were all negative .
I started him on Tacrolemus 0.2mg/kg/day ( serlomus syroup is not available inmy country), the father reported previous  cervical lymhpadenopathy  improved spontaneously several years back ( Bone Marrow aspiration was normal then).
The CBC was repeated yesterday then again today, both  showed  Leucocytosis with blasts in 29% and it increased  with repeating the test today.
BM aspiration confirmed the diagnosis of AML.
He was supposed to get HSCT from his brother  in November 2105.

Your kind assistance is highly apreciated .
Mehdi Adeli,
MD, FAAAAI, FACAAI, FAAP, A.B.A.I, A.B.P
Sr. Consultant Allergy & Immunology
Assistant Professor Weill Cornell Medical College -Qatar
Pediatrics Department.
Hamad Medical Corporation
Sidra Medical And Research Center
Al Doha- Qatar
Tel (O) :( 974) 4439-0328
Mob : (974) 6688 0048 /5522 9381/33429669.
Fax: (974) 4439-7857
E-Mail: madeli at hamad.qa<mailto:madeli at hmc.org.qa>

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