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

[Nacho Gonzalez]

Dear Pere and Joe,

PRF1 is pending (MUNC genes takes long and we have to decide what to do
next)
We are not able to perform antigen-specific T-cell response in our lab.
Antibody responses couldn´t be measured prior to steroids, as HLH occured at
the same time we knew the del22q11
Thanks,

Luis



2011/5/13 Church, Joseph <JChurch at chla.usc.edu>


>

>

> 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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