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

[Perez, Elena]

Dear Eleonora and Carsten,

Thanks for your insightful responses...

GH response:     Per mom, apparently on initial testing he was able to produce some GH when stimulated. The patient has been on growth hormone since 6y, and at the time he was significantly below the minimum growth curve for his age.  He's responded slowly but steadily.  The growth hormone he is receiving brings his IGF1 into normal range, however, his most recent visit with endocrinology, showed that there hasn't been any growth progress. He is getting a bone x-ray and repeat IGF1 (pending). Interestingly, mom is convinced that the GH has helped him stay well along with the IVIG.

CID vs. CVID: I have thought of that possibility, but not actively pursued it yet.  His T cells are low at last check-ALC 900 cells/ul, CD3 427cells/ul, CD4 330 cells/ul (17 cells/ul are CD45RA); CD8 78 cells/ul (26 cells/ul are CD45RA), NK 63 cells/ul and CD19 323cells/ul.  He was requiring occasional medrol for severe sinus disease per ENT, but even off of this his T cells haven't been great. Mitogen stimulation showed PWM 105,555cpm (>85000cpm ref), PHA 83,547 (>93,000 ref), and ConA 61,366cpm (>76,000cpm ref) [background not reported]. I will start down this path...

Cone dystrophy: full field ERG response shows cone dysfunction consistent with cone dystrophy and incomplete achromatopsia. Visual acuity is 20/250 bilaterally. If anyone knows a treatment for this pls let me know-eye doctors are just following at this point.

The patient is not mentally impaired, and I don't believe he has any joint problems.

Thanks again!
Elena



From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Eleonora Gambineri
Sent: Friday, March 09, 2012 10:25 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] CVID, GH deficiency, cone dystrophy

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<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto: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<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto: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 </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Quentien,%20MH> (Quentien, Marie-Helene)1; Delemer, B </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Delemer,%20B> (Delemer, Brigitte)2; Papadimitriou, DT </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Papadimitriou,%20DT> (Papadimitriou, Dimitris T.)4; Souchon, PF </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Souchon,%20PF> (Souchon, Pierre-Francois)5; Jaussaud, R </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Jaussaud,%20R> (Jaussaud, Roland)3; Pagnier, A</OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Pagnier,%20A>(Pagnier, Anne)6; Munzer, M </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Munzer,%20M> (Munzer, Martine)5; Jullien, N </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Jullien,%20N> (Jullien, Nicolas)1; Reynaud, R </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Reynaud,%20R> (Reynaud, Rachel)1,8; Galon-Faure, N </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Galon-Faure,%20N> (Galon-Faure, Noemie)8; Enjalbert, A </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Enjalbert,%20A> (Enjalbert, Alain)1,10; Barlier, A </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Barlier,%20A> (Barlier, Anne)1,10;Brue, T </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Brue,%20T> (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 </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=van%20Bilsen,%20K> (van Bilsen, K.)5; Driessen, GJ </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Driessen,%20GJ> (Driessen, G. J.)1; de Paus, RA </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=de%20Paus,%20RA> (de Paus, R. A.); van de Vosse, E </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=van%20de%20Vosse,%20E> (van de Vosse, E.)6;van Lom, K </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=van%20Lom,%20K> (van Lom, K.)2; van Zelm, MC </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=van%20Zelm,%20MC> (van Zelm, M. C.)3; Lam, KH </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Lam,%20KH> (Lam, K. H.)4; Hartwig, NG </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Hartwig,%20NG> (Hartwig, N. G.)1; Baarsma, GS </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=Baarsma,%20GS> (Baarsma, G. S.)7; van de Burg, M </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=van%20de%20Burg,%20M> (van de Burg, M.)3; van Hagen, PM </OneClickSearch.do?product=WOS&search_mode=OneClickSearch&colName=WOS&SID=3AlojCJhg2Gcfj45PjK&field=AU&value=van%20Hagen,%20PM> (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/20120313/15caf5dd/attachment-0001.html>