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

[Perez, Elena]

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.)8 Source: NETHERLANDS JOURNAL OF MEDICINE Volume: 66 Issue: 9 Pages: 368-372 Published: OCT 2008

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