[CIS PIDD] Self-resolving infant HLH?

[Pere Soler Palacin]

Dear all, we have a similar 3yo boy with perforin deficiency and 4 severe self-limited episodes of HLH and CNS involvement. HSCT has been denied due to neurological sequelae, he's currently under CsA therapy and remains asymptomatic. 


Pere. 
Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
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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Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
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 . 
  

No imprimir aquest correu ajudarà a preservar el medi ambient. 
Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut. Està prohibida la distribució no autoritzada del contingut d'aquest missatge. 

No imprimir este correo ayudará a preservar el medio ambiente. 
Si usted no es el destinatario del mensaje, o lo ha recibido por error, notifíquelo por favor al remitente y destruya el mensaje con todo su contenido. Está prohibida la distribución no autorizada del contenido de este mensaje. 

----- Mensaje original ----- 
De: "Michael Albert" <mialbert at gmail.com> 
Para: pagid at list.clinimmsoc.org 
CC: pagid at list.clinimmsoc.org 
Enviados: Miércoles, 26 de Septiembre 2012 8:58:11 
Asunto: Re: [CIS PIDD] Self-resolving infant HLH? 


We have also seen an infant with classical HLH at 4 weeks, resolved after 2 days of dexamethasone. He was negative for mutations in all HLH genes including XIAP. At 3 years he again had an episode of HLH which was self-resolving. Never any viral trigger identified and he remains EBV negative  which worries me. 
Michael 



PD Dr. med. Michael Albert 

Oberarzt 

Abteilung für Pädiatrische Hämatologie/Onkologie 

Leiter der Stammzelltransplantation 

Dr. von Haunersches Kinderspital der LMU 

Lindwurmstr.4 

80337 München 

Tel: 089 5160 2785 

Fax: 089 5160 4719 

Am 26.09.2012 um 01:00 schrieb "Dr. Carsten Speckmann" <carsten.speckmann at uniklinik-freiburg.de>: 


> 

> 

> 

> We have seen self limiting HLH in XIAP but also in hypomorphic FHL defects.  Besides doing mutation analysis on all known FHL genes it would be certainly also helpful to do degranulation analysis (CD107) of NK and CTL to see whether there is  a defect in the "degranulation machinery" in these cells. We have found this extremely helpful in our center for the the evaluation process of HLH. You might also find the following paper useful: http://www.ncbi.nlm.nih.gov/pubmed/22294731 

> 

> Kind regards, Carsten Speckmann 

> -- 

> Dr. med. Carsten Speckmann 

> Facharzt 

> Zentrum fuer Kinderheilkunde und Jugendmedizin 

> Centrum fuer Chronische Immundefizienz - CCI 

> Universitaet Freiburg 

> Mathildenstr. 1 

> 79106 Freiburg 

> Germany 

> 

> phone: +49 (0)761-270 43010 

> mail: carsten.speckmann at uniklinik-freiburg.de 

> web: www.cci.uniklinik-freiburg.de 

> 

> 

> Am 26.09.12 00:04, schrieb Verbsky, James: 

>> Blachy 

>> 

>> We had a similar patient who presented with fevers and cytopenias, CMV positive...looked like HLH but was improving spontaneously  so no further w/u or treatment was given.  Several months later got EBV and developed full criteria for HLH again.  Had perforin deficiency. 

>> 

>> Best 

>> 

>> James 

>> 

>> 

>> James W. Verbsky MD/PhD 

>> Associate Professor of Pediatrics and Medical Microbiology and Genetics 

>> Medical College of Wisconsin 

>> Milwaukee, WI  53211 

>> jverbsky at mcw.edu 

>> 414-266-6701 (phone) 

>> 414-266-6695 (fax) 

>> 

>> 

>> 

>> -----Original Message----- 

>> From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Blachy Davila-Saldana 

>> Sent: Tuesday, September 25, 2012 4:55 PM 

>> To: 'pagid at list.clinimmsoc.org' 

>> Subject: [CIS PIDD] Self-resolving infant HLH? 

>> 

>> 

>> The CIS-PIDD listserv is supported by: 

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>> 

>> P: +1.414.224.8095 

>> E: info at clinimmsoc.org 

>> 

>> Not a member of CIS? Please visit www.clinimmsoc.org to join! 

> 

> 

> 

> The CIS-PIDD listserv is supported by: 

> Clinical Immunology Society - The science & practice of human immunology 

> 

> P: +1.414.224.8095 

> E: info at clinimmsoc.org 

> 

> Not a member of CIS? Please visit www.clinimmsoc.org to join! 

The CIS-PIDD listserv is supported by: 
Clinical Immunology Society - The science & practice of human immunology 

P: +1.414.224.8095 
E: info at clinimmsoc.org 

Not a member of CIS? Please visit www.clinimmsoc.org to join!
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