[CIS PIDD] [MARKETING][cis-pidd] ALPS probable

[CIS-PIDD]

Hi!

The most cost-effective, and a highly specific and sensitive method to screen for ALPS is described in...

Haematologica. 2013 Dec; 98(12): 1948–1955.
doi:  10.3324/haematol.2012.081901<http://dx.doi.org/10.3324%2Fhaematol.2012.081901>
(open access)

...by the Freiburg group.

S-B12 is likely available, I do not know where you could get the flow.

Genetic studies would potentially need not only germline but also cell sorting --> then deep seq for somatic mutation discovery, thus costly.

ATB, hope this helps

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)

Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 24.2.2016 kello 18.14:

Best regards
I'm evaluating a patient with probable autoimmune lymphoproliferative syndrome (ALPS). It makes me need to be able to do studies to confirm the diagnosis.
Thanking your attention.

--
Atte
Wilmer Córdova
Inmunología Alergología
Instituto Nacional de Salud del Niño - Perú
http://www.isn.gob.pe<http://www.isn.gob.pe/>
wcordova at insn.gob.pe<mailto:wcordova at insn.gob.pe>
facebook.com/<http://facebook.com/>wilmer.cordova.71
twitter: @wilmer_cordova

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