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

[CIS-PIDD]

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 CenterAl Doha- Qatar 

Tel (O) :( 974)
4439-0328

Mob : (974)
6688 0048 /5522 9381/33429669.

Fax: (974) 4439-7857

E-Mail: madeli at hamad.qa 		 	   		  
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