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

[Eleonora Gambineri]

Dear Elena,

in STAT5b deficiency there is GH insensitivity and usually lung  
involvement. GH is high and IGF1/IGFBP3 are low. Have you tested  
those? Moreover, did the patient respond to GH replacement? because  
there is usually no response in STAT5b deficiency.

I hope this helps.

Best wishes,
Eleonora

*******************************************************************
Dott.ssa Eleonora Gambineri
Ricercatore Universitario

Universita' degli Studi di Firenze, Dipartimento di Scienze per la  
Salute della Donna e del Bambino
Ospedale Pediatrico "Anna Meyer", Dipartimento di Oncoematologia-Unità  
TMO
Viale Gaetano Pieraccini, 24
50139 FIRENZE
Tel 055 5662405 (ufficio)
        055 5662606 (reparto T.M.O.)
Fax 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it

Eleonora Gambineri, MD
Researcher/Assistant Professor

University of Florence, Department of Sciences for Woman and Child's  
Health
"Anna Meyer" Children's Hospital, Department of Haem/Onc-BMT Unit
Viale Gaetano Pieraccini, 24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)
        +39 055 5662606 (BMT Unit)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it
********************************************************************





On 08/mar/12, at 20:16, Perez, Elena wrote:


> 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.)8Source: NETHERLANDS JOURNAL OF  

> MEDICINE Volume: 66 Issue: 9 Pages: 368-372 Published: OCT 2008

>


-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20120309/9852afd9/attachment-0001.html>