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

[Church, Joseph]

Were antigen-specific T-cell or antibody responses measured prior to
steroids?

 

Joe Church

Children's 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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