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

[Nacho Gonzalez]

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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