[PAGID] ?Unique XHIM patient

[Kimberly Risma]

Does he have antibody titers to vaccines? 
Have you tested more than one Ab for CD40L (including the CD40:FC reagent)?
Because sometimes one Ab will not recognize the epitope of the protein but
another will. We can help you with this if need be,
Kim

Kimberly Risma MD, PhD
Assistant Professor
Allergy Immunology
Childrens Hospital Medical Center
3333 Burnet Ave, mlc 2000
Cincinnati, OH 45229
Kimberly.Risma at cchmc.org


>>> "Church, Joseph" <JChurch at chla.usc.edu> 7/20/2010 4:17 PM >>>

Colleagues:

 

I am seeing an 11yo boy with XHIM for a second opinion regarding
management.

 

*	He has had no infections indicative of B-cell/antibody
deficiency.
*	He has had intermittently severe neutropenia since 2yo, now
requiring increasing doses of G-CSF.
*	His IgG and IgM levels prior to IVIG therapy were normal; IgA
was undetectable.
*	1% of activated CD3+CD4+ express CD154.
*	He has a novel mutation: 290(-7) T>G in the splicing receptor
site of intron 2.
*	A recent bone marrow showed "cellular marrow with trilineage
hematopoiesis; left shifted granulopoiesis."
*	Two sibs are not HLA matches.

 

Could the neutropenia be autoimmune?

 

Does hemophagocytic syndrome/macrophage activation syndrome cause
unilinear (in this case granulocyte) cytopenia?

 

I think HSC transplant is still indicated.  Would anyone disagree?

 

Thank you for your help.

 

Joe Church

Childrens Hospital Los Angeles