[PAGID] ?Unique XHIM patient

[Church, Joseph]

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

 

 

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