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

[Berger, Melvin]

? EBV
 
Melvin Berger, M.D., Ph.D.
Adjunct Professor of Pediatrics and Pathology
Case Western Reserve University
Cleveland, OH 44106

________________________________

From: pagid-bounces at list.clinimmsoc.org on behalf of Nacho Gonzalez
Sent: Fri 5/13/2011 11:31 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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