[CIS PIDD] [cis-pidd] XLP on screening

Wed Oct 18 18:28:42 EDT 2017

Hmmm….very interesting debate indeed. I would not be so affirmative on the rule of non transplanting an asymptomatic child. There are many other situations (HLH for example) in which we transplant asymptomatic patients when discovered by screening for an index case as sibling for example.
I agree with XiAP expression as well as MAIT counts, and if these tests appeared to be abnormal, I would go for a transplant. If the tests are normal…. well I don’t know but you would not need to push me very hard to transplant.
Elie

Elie Haddad, MD, PhD,
Professor of Pediatrics, University of Montreal,
Head, Pediatric Immunology and Rheumatology Division,
e-mail: elie.haddad at umontreal.ca <mailto:elie.haddad at umontreal.ca>

> Le 2017-10-18 à 18:14, CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>> a écrit :
> 
> Burkitt like lymphoma and SH2D1A mutation make sense for transplant, but an asymptomatic child with an unknown XIAP variant doesn't. Even if it was a known pathologic mutation, I don't think we would recommend transplant yet. You could look for XIAP protein expression by flow and if normal, unlikely this is pathologic. This is a bit hard to comprehend or rather explain, but we need to stick to the science - these assays should not be used as screening tools. 
> 
> Ashish 
> Ashish Kumar, MD, PhD 
> Associate Professor 
> Director, Pediatric Hematology-oncology fellowship program 
> Director, Langerhans cell histiocytosis center 
> Cincinnati Children's Hospital Medical Center 
> 
> On Oct 18, 2017, at 4:53 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
> 
>> We just had a scarily similar case…
>> 
>> Patient had WES for developmental delay.  He came into the seen when the (in his case SH2D1A) mutation was found.  Upon arrival- he had adenopathy and it turned out to be a Burkitts like lymphoma.
>> 
>> I think they can do bad things in unpredictable ways and a three year old is more resilient for a transplant than an older kiddo/adult.
>> 
>> 
>> Kate
>> Sullivan, Kathleen MD PhD
>> Wallace Chair 
>> Chief of Allergy Immunology
>> ARC 1216 CHOP
>> 3615 Civic Center Blvd.
>> Philadelphia, PA 19104
>> (p) 215-590-1697
>> (f) 267-426-0363
>> sullivank at email.chop.edu <mailto:sullivank at email.chop.edu>
>> 
>> 
>> 
>>> On Oct 18, 2017, at 4:47 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
>>> 
>>> Dear All:
>>> 
>>> I was consulted on the following case and would appreciate your input:
>>> 
>>> A 3 year old male, with a family history of Adams-Olivier syndrome, underwent screening when he was a newborn by whole-genome sequencing in what appears to be an accredited diagnostic laboratory in the U.S. (I do not have further details... I think he was screened because of the potential neuro-developmental delays associated with this disorder; he did not have any of the associated malformations).
>>> 
>>> While he did not have any mutations in genes associated with the targeted syndrome, he was found to have a variant in XIAP (NM_001167; c.340C>T; p.Gln114*). This is obviously predicted to be deleterious.
>>> 
>>> He is asymptomatic, including no GI symptoms.
>>> He has been treated with IVIG, as prophylaxis against EBV. He has no hypo/dys-gammaglobulinemia (prior to starting IVIG at around 2 years of age).
>>> 
>>> Given the broad presentations of XIAP deficiency, what recommendations would you make? Specifically, would you recommend going to HSCT ASAP?
>>> 
>>> Thanks,
>>> Don
>>> 
>>> 
>>> 
>>> 
>>> 
>>> Donald C. Vinh, MD, FRCP(C)
>>> Director, Infectious Disease Susceptibility Program
>>> Lilian Wilkins Associate Professor, FRQS Clinician-Scientist
>>> Dept of Medicine (Division of Infectious Diseases; Division of Allergy & Clinical Immunology)
>>> Dept of Medical Microbiology; Dept of Human Genetics
>>> 
>>> McGill University Health Centre - Research Institute
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