[CIS PIDD] Self-resolving infant HLH?

[Dr. Carsten Speckmann]

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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