[CIS-PAGID] Patient with del22q11, autoimmunity and HLH

[Cunningham-Rundles, Charlotte]

We have used Rituxan now in two like this with DiGeorge and ITP. Does work
fine. 

Charlotte Cunningham-Rundles MD PhD
Departments of Medicine, Pediatrics
The Immunology Institute
Mount Sinai School of Medicine
1425 Madison Avenue,
New York City, New York, 10029
212 659 9268 (phone)
212 987 5593 (fax)



From: "Church, Joseph" <JChurch at chla.usc.edu>
Reply-To: PAGID <pagid at list.clinimmsoc.org>
Date: Fri, 13 May 2011 08:40:18 -0700
To: PAGID <pagid at list.clinimmsoc.org>
Subject: Re: [CIS-PAGID] Patient with del22q11, autoimmunity and HLH

 
Were antigen-specific T-cell or antibody responses measured prior to
steroids?
 
Joe Church
Children¹s Hospital Los Angeles
 
 
 


From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho Gonzalez
Sent: Friday, May 13, 2011 8:32 AM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] Patient with del22q11, autoimmunity and HLH
 

Dear PAGID members,

 

I would like to ask for your help in a 4 y.o female with del22q11 (DGS)

When she was 18 month-old: Chronic ITP. Remission with steroids. Afterwards
develops autoinmune neutropenia, also with recurrent infections, even
pneumonia (Pseudomonas aeruginosa).

Admission in ICU (22/9/2010-20/10/2010): Respiratory distress, fever,
massive hepatosplenomegaly and pancytopenia fulfilling HLH criteria, treated
with steroids (w/o bone marrow aspirate due to poor condition of the
patient) and progresive improvement. Three months after suffers recurrence
of HLH (+ hemophagocytosis in bone marrow aspirate) so we treated her with
CsA+VP16+steroids with partial response (fever dissapeared, less
splenomegaly and WBC: 1700 Leucocytes (300 Neutr/uL) 72.000 /uL platelets.
Lymph subsets: CD3+ between 500-1500/uL. Normal proliferative response.
Hypergammaglobulinemia (normal DN, apoptosis tests: normal)

 

What to do next? Wait and see? Rituximab? Would you consider BMT?

 

Thanks for your time,

 

Luis Ignacio Gonzalez Granado

Immunodeficiencies.

Hospital 12 octubre. Madrid. Spain

 
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