[CIS PIDD] [cis-pidd] AW: HLH gene testing

[Hauck, Fabian Dr.med.]

Dear Kahn Preece,

the overall constellation really suggesty SAP-deficiency. Are the further male family members of former generations that passed away under similar circumstances? If you have any PBMCs left, you might screen for SAP-expression by flow cytometry and if negative directly go for SH2D1A sequencing.

Best regards, 
Fabian Hauck
Peadiatric Immunology
Munich, Germany
________________________________________
Von: Kahn Preece (ADHB) [KahnP at adhb.govt.nz]
Gesendet: Sonntag, 11. Mai 2014 23:14
An: CIS-PIDD
Betreff: [cis-pidd] HLH gene testing

Hi all,

I am Pediatric Clinical Immunologist in Auckland, New Zealand. We recently had a 12month old male patient transferred from Tonga (a small collection of pacific islands to the north). His was a tragic story.

Two weeks preceding transfer he lost a 6 year old brother to a rapid systemic illness that was undiagnosed. His male monozygotic twin then became ill and over the course of 3-4 days became severely unwell and died of overwhelming hypotension and renal failure. Again no diagnosis was made and limited clinical history for the two boys on the islands. Local epidemiology had a recent increase in chikungunya infections and this was initially thought to be implicated, despite the much more severe outcome than would be expected.

On transfer he was febrile but clinically had only a mild illness. He rapidly deteriorated and died day 4 of admission. He had a diagnosis of HLH made on day three of admission after unrelenting fever, hepatitis, Hyperferritinemia (>50 000), hypertriglyceridemia, cytopenia and organomegally. No biopsy was taken (BM or liver). He was commenced on HLH2004 but died soon after. EBV load on whole blood was 3.2 log copies per ml (1900 IU/ml) 24hrs prior to his ultimate demise. Other extensive viral serology, including Chikungunya and dengue, was negative. There was no dysgammaglobulinaemia and his history up to that point was infection free. There was no other relevant family history and no divulged consanguinity.

We are trying to minimize the cost of genetic analysis for this family who are not covered by the NZ public health care system. I am therefore enquiring about the possibility of a genetic “panel” for hereditary HLH, including obviously XLP1 and 2 but also the FHL1-5. Is this something anyone is aware of that is run commercially? If so what is the cost and turnaround time? Also, as a side note, is it possible to have an episode of EBV triggered HLH with XLP and have such a low viral load?

Thanks in advance for your time.


Dr Kahn Preece
Paediatric Immunologist
Starship Children's Health
kahnp at adhb.govt.nz


---

The CIS-PIDD listserv is supported by:

[http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]
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<https://cis.execinc.com/edibo/Signup> to join!

You are currently subscribed to cis-pidd as: fabian.hauck at med.uni-muenchen.de<mailto:fabian.hauck at med.uni-muenchen.de>.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=188256718.ff9fe98296347b85fa9ea70e8561a6f2&n=T&l=cis-pidd&o=44872026


---
The CIS-PIDD listserv is supported by the 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!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=44873093
or send a blank email to leave-44873093-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org