[CIS PIDD] [cis-pidd] STAT3

[CIS-PIDD]

Dear all,
Is one of you aware of HIES patients with a STAT3 mutation in the linker domain?
I am also interested in patients with a het STOP codon or a het frameshift mutation leading to only one expressed allele.
Is anybody aware of such patients/mutations?
Best regards,
Bodo

****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Engesserstraße 4, 79108 Freiburg
bodo.grimbacher at uniklinik-freiburg.de<mailto:bodo.grimbacher at uniklinik-freiburg.de>
www.uniklinik-freiburg.de/cci

and

Consultant Immunologist
Institute of Immunity & Transplantation
Dept of Immunology
Royal Free Hospital
UNIVERSITY COLLEGE LONDON
Pond Street
London NW3 2QG
b.grimbacher at ucl.ac.uk<mailto:b.grimbacher at ucl.ac.uk>
www.centreforimmunodeficiency.com

Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Friday 20 November 2015 14:35
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: Re: [MARKETING][cis-pidd] C5 deficiency

Although it is certainly appropriate to vaccinate, I don't know that having preformed serotype specific antibody is protective in patients with terminal complement component deficiency. I have only seen one patient, long ago when I was a fellow, who had high titer IgG serotype specific antibody on the day of presentation with meningitis. My only point is that the patient and the patient's primary care physician should not be complacent following vaccination.

Richard Wasserman
Dallas

On Thu, Nov 19, 2015 at 11:51 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
Yes, conjugated

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)

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

phone +358 947180201<tel:%2B358%20947180201>
GSM +358 50 4279606<tel:%2B358%2050%204279606>
fax +358 9 47174703<tel:%2B358%209%2047174703>

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 19.11.2015 kello 17.46:

Dear all,

Do you recommend recombinant meningococcal vaccine for patients with late complement component deficiencies?
Thanks

Yesim



Yesim Yilmaz Demirdag, MD
Columbia University Medical Center


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--
Richard L. Wasserman, MD, PhD
Allergy Partners of North Texas
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

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