[PAGID] ?Unique XHIM patient
Dewton Vasconcelos
dmvascon at usp.br
Thu Jul 22 07:55:23 EDT 2010
Dear Joe, good morning
After all these very interesting comments I wondered about the real need
of IVIg in this patient. If he hadx normal IgG levels before IgG
replacement, is he really a candidate for replacement? I remember that
you said that you do not have the previous serologies. How about testing
him with PhiX174 immunization to unravel his capacity of responding to a
new antigen?
Dewton Vasconcelos
University of Sao Paulo Medical School
Church, Joseph wrote:
> Thank you all for your very helpful comments. Joe Church
>
> -----Original Message-----
> From: pagid-bounces at list.clinimmsoc.org
> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Conley, Mary
> Ellen
> Sent: Wednesday, July 21, 2010 11:33 AM
> To: 'pagid at list.clinimmsoc.org'
> Subject: Re: [PAGID] ?Unique XHIM patient
>
> Hi Joe,
> I would guess that most of my colleagues will disagree with me but I
> would not push for transplant in this patient. His mutation in CD40L
> would be considered a mild mutation - it is likely that it impairs but
> does not ablate correct splicing of the message. His normal IgG and
> lack of infections also suggests milder disease. I doubt the
> neutropenia is due to hematophagocytic syndrome. There are old data
> indicating that stromal cells express CD40 and secrete G-CSF in response
> to CD40L. However, only some patients with CD40L deficiency have
> neutropenia. Maybe we can blame the modifying genetic factors? Most of
> the push for transplant in patients with CD40L deficiency comes from the
> European review that showed that patients had a high incidence of crypto
> and sclerosing cholangitis and a high incidence of death in the 3rd
> decade. The crypto does not seem to be as common in CD40L deficient
> patients in the US.
> Mary Ellen
>
>
>
>
>
> Mary Ellen Conley, MD
> Department of Immunology/ Mail Stop 351
> St. Jude Children's Research Hospital
> 262 Danny Thomas Place
> Memphis, TN 38105-3678
> FAX 901-595-3977
> TEL 901-595-2576
>
>
> -----Original Message-----
> From: pagid-bounces at list.clinimmsoc.org
> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Kimberly Risma
> Sent: Wednesday, July 21, 2010 9:55 AM
> To: pagid at list.clinimmsoc.org
> Subject: Re: [PAGID] ?Unique XHIM patient. .
>
> 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
>
>
>
>
>
>
>
>
> Email Disclaimer: www.stjude.org/emaildisclaimer
>
>
>
>
>
>
>
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