[CIS PIDD] Primary immune deficiency and alpha-1 antitrypsindeficiency?

[Desa Lilic]

It depends on what you coin A1AT deficiency because mildly reduced levels (MZ or MS genes variants as opposed to SS SZ & ZZ) are a relatively frequent finding in general (1:2500 - 1-5000 newborns, Orphanet J Rare Dis. 2008 Jun 19;3:16) and probably also very often not diagnosed at all 

Desa Lilic, MD, MSc, PhD, FRCPath
Consultant & Clinical Senior Lecturer in Immunology
Institute for Cellular Medicine
4th Fl Cookson Bldg
Faculty of Medical Sciences
University of Newcastle
Newcastle upon Tyne, UK, NE2 4HH

tel: ++ 44 (0)191 222 7244
fax: ++ 44 (0)191 222 5455
email: desa.lilic at ncl.ac.uk



>-----Original Message-----

>From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-

>bounces at list.clinimmsoc.org] On Behalf Of Bodo Grimbacher

>Sent: 07 September 2012 15:36

>To: pagid at list.clinimmsoc.org

>Subject: Re: [CIS PIDD] Primary immune deficiency and alpha-1

>antitrypsindeficiency?

>

>

>I have another two with CVID and A1AT in London.

>Is this too many to be by chance?

>

>Yours,

>Bodo

>

>

>****************************************

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

>

>Scientific-Director

>CCI - Centre of Chronic Immunodeficiency UNIVERSITÄTSKLINIKUM FREIBURG

>Tel.: 0761 270-77731  Fax: -77744

>Engesserstraße 4, 79108 Freiburg

>bodo.grimbacher at uniklinik-freiburg.de

>www.uniklinik-freiburg.de/cci

>

>and

>

>Consultant Immunologist

>Department of Immunology

>Royal Free Hospital

>UNIVERSITY COLLEGE LONDON

>Pond Street

>London NW3 2QG

>b.grimbacher at ucl.ac.uk

>www.centreforimmunodeficiency.com

>

>

>

>

>

>

>

>

>

>

>Am 06.09.12 19:59 schrieb "Ravishankar.Sargur at sth.nhs.uk" unter

><Ravishankar.Sargur at sth.nhs.uk>:

>

>>

>>We have 1 patient with CVID and A1AT deficiency.

>>

>>Dr Ravishankar Sargur

>>MD, FRCPath, FRCP

>>Consultant Clinical Immunologist

>>Immunology, NGH

>>Sheffield Teaching Hospitals Foundation NHS Trust.

>>

>>Sheffield

>>United Kingdom

>>

>>

>>-----Original Message-----

>>From: pagid-bounces at list.clinimmsoc.org

>>[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of

>raas0027 at umn.edu

>>Sent: 06 September 2012 18:16

>>To: pagid at list.clinimmsoc.org

>>Subject: [CIS PIDD] Primary immune deficiency and alpha-1

>>antitrypsindeficiency?

>>

>>

>>Just a quick survey:

>>

>>Anyone out there with patients who have both primary immune deficiency

>>(e.g. CVID, CGD, etc.) that ALSO have alpha-1 antitrypsin deficiency?

>>

>>PUBMED search revealed only a few cases reoports of HIV or IgG subclass

>>deficiency.

>>

>>Came up in conversation today and I could not remember ever hearing

>>about a

>>case.

>>

>>Thanks for your thoughts.

>>

>>-J

>>

>>--

>>Jason Raasch, MD

>>

>>Midwest Immunology Clinic

>>15700 37th Ave N

>>Suite 110

>>Plymouth, MN 55446

>>

>>(Phone) 763.577.0008

>>(FAX)   763.5770192

>>The CIS-PIDD listserv is supported by:

>>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!

>>The CIS-PIDD listserv is supported by:

>>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!

>

>

>The CIS-PIDD listserv is supported by:

>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!