[CIS-PAGID] CVID, GH deficiency, cone dystrophy

[Dr. Carsten Speckmann]

http://maxcachiafund.org/sites/all/themes/maxcachiafund/pdfs/ClinGen1999.pdf

But also consider a known CID with atypical presentation (leaky SCID), I would analyze T cell phenotype and function in depht. It is probably not CVID.

Kind regards, Carsten 
--
Sent from my phone - please excuse the brevity and possible typos

Dr. Carsten Speckmann 
Center for Chronic Immunodeficiency - CCI
and Center of Pediatrics
University of Freiburg
Germany
phone: +49 (0)761 270 43010
fax: +49 (0)761 270 45990
www.cci.uniklinik-freiburg.de

Am 08.03.2012 um 20:16 schrieb "Perez, Elena" <eperez2 at health.usf.edu>:


> Hello all,

>  

> Has anyone seen CVID with T cell lymphopenia, growth hormone deficiency, and cone dystrophy?

>  

> I have a 13yo diagnosed at 3y of age (in 2001) who presented with low IgG, IgA and normal IgM, neutropenia and thrombocytopenia (IgG 284 mg/dL, IgM 38 mg/dL, IgA less than 5). He was initially thought to have Evan’s syndrome and then later diagnosed with CVID. He also had reportedly low expression of CD40l but I sent genetics and no mutation was detected. He’s had low T cells and poor stimulation (although present) to mitogens.  He’s on growth hormone, IVIG, and TMP-SMX.

>  

> I’ve looked into some of the genetics for cone dystrophy and wonder if there is a link to immunodeficiency. There is at least one reference in the literature for ADAM family (ADAM9) defect, and some of the cone dystrophies appear to be localize to the X chromosome or chromosome 6.

>  

> I found these references in the literature… (below)

>  

> Wondering whether to pursue genetics for any of the cone dystrophies, (not sure it would help management necessarily) and also wondering if anyone has seen this association…  The patient’s vision has deteriorated over time.

>  

> How about STAT5b? Any further work up recommended? I took over his care recently, so may not have access to all past work up.

>  

>  

> Thanks,

>  

> Elena Perez, MD, PhD

> University of South Florida

> All Children’s Hospital

> St. Petersburg, FL

>  

>  

>  

>  

> Deficit in Anterior Pituitary Function and Variable Immune Deficiency (DAVID) in Children Presenting with Adrenocorticotropin Deficiency and Severe Infections

> Author(s): Quentien, MH (Quentien, Marie-Helene)1; Delemer, B (Delemer, Brigitte)2; Papadimitriou, DT (Papadimitriou, Dimitris T.)4; Souchon, PF (Souchon, Pierre-Francois)5; Jaussaud, R (Jaussaud, Roland)3; Pagnier, A (Pagnier, Anne)6; Munzer, M (Munzer, Martine)5; Jullien, N (Jullien, Nicolas)1; Reynaud, R (Reynaud, Rachel)1,8; Galon-Faure, N (Galon-Faure, Noemie)8; Enjalbert, A (Enjalbert, Alain)1,10; Barlier, A (Barlier, Anne)1,10; Brue, T (Brue, Thierry)1,7,9

> Source: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM Volume: 97 Issue: 1 Pages: E121-E128 DOI: 10.1210/jc.2011-0407 Published: JAN 2012

>  

>  

> This paper reports that family history of case report had “vision problems”:

>  

> Low level IGF-I and common variable immune deficiency: an unusual combination Author(s): van Bilsen, K (van Bilsen, K.)5; Driessen, GJ (Driessen, G. J.)1; de Paus, RA (de Paus, R. A.); van de Vosse, E (van de Vosse, E.)6; van Lom, K (van Lom, K.)2; van Zelm, MC (van Zelm, M. C.)3; Lam, KH (Lam, K. H.)4; Hartwig, NG (Hartwig, N. G.)1; Baarsma, GS (Baarsma, G. S.)7; van de Burg, M (van de Burg, M.)3; van Hagen, PM (van Hagen, P. M.)8 Source: NETHERLANDS JOURNAL OF MEDICINE Volume: 66 Issue: 9 Pages: 368-372 Published: OCT 2008

>  

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