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

[stephan.ehl at uniklinik-freiburg.de]

Dear Nacho,

we have seen three patients (2-6 years old) with DGS, massive
hepatosplenomegaly, recurrent fevers (in 1), pancytopenia and hypergamma. T
cells were low in 1 and elevated in 2 pt and expressed high levels of
HLA-DR. sCD25 was highly elevated. All three had autoantibody-mediated
cytopenia.
We treated with steroids and MMF in 2 patients, sirolimus in the third. All
patients had significant improvements.

I would try sirolimus and steroids and give rituximab if this fails to
handle the autoimmune cytopenia.


One of the patients has been published.

Acta Paediatr. 2009 May;98(5):769-70, 912-4.

Pancytopenia in a 4-year-old boy. 22q11.2 microdeletion syndrome.




Please contact me for details - would be nice to use similar follow-up

parameters and report the experience together.



Beste Grüße

Prof. Dr. Stephan Ehl
Wissenschaftlicher Direktor

UNIVERSITÄTSKLINIKUM FREIBURG
CCI - Centrum für Chronische Immundefizienz

Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany
Telefon: +49(0)761.270-77300
Sekretariat +49(0)761.270-77550  fax +49(0)761.270-77600
e-mail: stephan.ehl at uniklinik-freiburg.de





Von:	Pere Soler Palacin <psoler at vhebron.net>
An:	pagid at list.clinimmsoc.org
Datum:	13.05.2011 17:36
Betreff:	Re: [CIS-PAGID] Patient with del22q11, autoimmunity and HLH
Gesendet von:	pagid-bounces at list.clinimmsoc.org



Dear Nacho, have you considered performing genetic analysis for familial
forms of HLH despite normal apoptosis tests? This could be useful when
considering BMT.

Yours

Pere.





Pere Soler Palacín, MD, PhD
Pediatric Infectious Diseases and Immunodeficiencies Unit.
Vall d'Hebron Hospital.
Passeig de la Vall d'Hebron 119-129.
08035 Barcelona. Spain.
Tel: 0034934893140. Fax: 0034934893039.
E-mail: psoler at vhebron.net; 34660psp at comb.cat  Web: www.upiip.com


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----- Mensaje original -----
De: "Nacho Gonzalez" <nachgonzalez at gmail.com>
Para: pagid at list.clinimmsoc.org
Enviados: Viernes, 13 de Mayo 2011 17:31:34
Asunto: [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