[CIS PIDD] [cis-pidd] VS: Hyper IgM

Fri May 20 02:47:40 EDT 2016

Hi Stan, 

personally I like to use, besides those listed by Javier (which I do also frequently use), also these:

1) J Clin Immunol. 2015 Jan;35(1):75-9. doi: 10.1007/s10875-014-0107-3. Epub 2014 Oct 15.

Epidemiology of Primary Immunodeficiency in Iceland.

Ludviksson BR, Sigurdardottir ST, Johannsson JH, Haraldsson A, Hardarson TO.

Basically, in my opinion it tells the story of population isolates, where genetic bottlenecks may create founder mutations and increase the prevalence further (like for example AICDA mutations causing CSRDs in Canada and Finland). Coming from Iceland, it has the strengths of high quality registers and full coverage of the population and likely less missed diagnoses since socioeconomic status does not play a strong role in access to diagnostic studies.

2) Mayo Clin Proc. 2009;84(1):16-22. doi: 10.1016/S0025-6196(11)60802-1.

Incidence and temporal trends of primary immunodeficiency: a population-based cohort study.

Joshi AY1, Iyer VN, Hagan JB, St Sauver JL, Boyce TG.

Which tells the temporal trends created by improved diagnostics and awareness.

Hope this helps,

ATB

Mikko

oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE), HUS

Mikko Seppänen, MD, PhD, Associate professor 
Specialist in Internal Medicine and Infectious Diseases
Head, Rare Disease Center, Helsinki University Hospital (HUH)
Children's Hospital, P.O.Box 280
FI-00029 HUS
FINLAND
&
Senior Consultant (PIDD)
Adult Immunodeficiency Unit
Inflammation Center, HUH

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Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
Lähetetty: 20. toukokuuta 2016 3:25
Vastaanottaja: CIS-PIDD <cis-pidd at lyris.dundee.net>
Aihe: RE:[cis-pidd] Hyper IgM

Wonderful!  Thank you.

Stan

-----Original Message-----
From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
Sent: Thursday, May 19, 2016 5:20 PM
To: CIS-PIDD
Subject: Re:[cis-pidd] Hyper IgM

Two popular references

Prevalence and morbidity of primary immunodeficiency diseases, United States 2001-2007.
Kobrynski L, Powell RW, Bowen S.
J Clin Immunol. 2014 Nov;34(8):954-61. 

Population prevalence of diagnosed primary immunodeficiency diseases in the United States.
Boyle JM, Buckley RH.
J Clin Immunol. 2007 Sep;27(5):497-502.

Javier Chinen
Texas Childrens Hospital

________________________________________
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Sent: Thursday, May 19, 2016 6:51 PM
To: CIS-PIDD
Subject: RE:[cis-pidd] Hyper IgM

Questions for the list serve:

If we were to consider the total number of patients with a new diagnosis of any PIDD each year, what would that number be?  What is the incidence of any PIDD?

What would the prevalence of patients with any PIDD be?

I can find incidence and prevalence for a few of the PIDDs, but nothing in the aggregate.  Any suggested sources?

Stan

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