[PAGID] ?Unique XHIM patient

[Verbsky, James]

Dr Church

Do you have levels of ferritin, triglycerides, fibrinogen, or CD25?  Are there anti-neutrophil antibodies??  I have personally never seen MAS present with only one cell line down, and if the ferritin isnt above 1000(or more likely 5000), I would find it unlikely that this is MAS/HLH.  Surprising that this childs IgG is normal and that there is no history of infections.  Has this mutation been described??

Best of luck

James

James Verbsky MD/PhD
Assistant Professor of Pediatrics and Microbiology and Molecular Genetics
Medical College of Wisconsin
Milwaukee, WI  53226

________________________________
From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] On Behalf Of Church, Joseph [JChurch at chla.usc.edu]
Sent: Tuesday, July 20, 2010 3:17 PM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] ?Unique XHIM patient

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