[CIS PIDD] Self-resolving infant HLH?

[Michael Albert]

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?

>> 

>> 

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> 

> 

> 

> The CIS-PIDD listserv is supported by:

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