[CIS-PAGID] ADA deficiency hearing loss

[Junker, Anne]

I was a guest consultant at another centre where a child was presented a few years ago - this is the email response to my query today, based on your post.  anne



Yes, the child (now age 15) does have hearing loss and wears hearing aids.  I do think that the hearing loss is likely a component of the "ADA syndrome".  In addtion, the patient, who received gene therapy, has multiple other medical concerns including visual impairment, precocious puberty, features of autism, bone changes and multiple hematologic changes (cytopenias, stippling of certain cell lines).  The NIH team, I am told, is about to report on their collection of gene therapy patients.  The NIH group would likely have more insight into the hearing changes in these patients.


Anne K. Junker, MD, FRCP(C)
Associate Professor, Pediatrics
Director, Clinical Immunology Service, BC Children's Hospital
Director, Clinical & Population Studies, Child & Family Research Institute
Director, Maternal Infant Child Youth Research Network of Canada/Reseau de Recherche en Sante des Enfant et des Meres (MICYRN)
K4-223 4480 Oak Street
Vancouver, British Columbia
Canada  V6H 3V4
phone: 604-875-3591
fax: 604-875-2414
email: ajunker at cw.bc.ca


From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Richard Wasserman
Sent: Thursday, May 26, 2011 1:33 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] ADA deficiency hearing loss

He has not had an MRI in several years. The hearing loss has been slowly, but steadily progressive for many years. There is no vertigo. There are no other neurologic findings. He has been fully treated with Adagen since age 2.
Richard Wasserman
2011/5/26 Sanchez Ramon.Silvia <ssanchez.hgugm at salud.madrid.org<mailto:ssanchez.hgugm at salud.madrid.org>>
Has he demyelinating lesions on brain MRI? is deafness fluctuating, with vertigo?

Silvia SÁNCHEZ-RAMÓN, MD, PhD
Unidad de Inmunología Clínica
Servicio de Inmunología
Hospital General Universitario Gregorio Marañón
Calle Doctor Esquerdo, 46
E- 28007 - Madrid, Spain
Tel: +34 914265181<tel:%2B34%20914265181>
FAX: +34 915868018<tel:%2B34%20915868018>
E-mail: ssanchez.hgugm at salud.madrid.org<mailto:ssanchez.hgugm at salud.madrid.org>
________________________________________
De: pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org> [pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org>] En nombre de Richard Wasserman [drrichwasserman at gmail.com<mailto:drrichwasserman at gmail.com>]
Enviado el: jueves, 26 de mayo de 2011 17:34
Para: PAGID
Asunto: [CIS-PAGID] ADA deficiency hearing loss

I care for a 13 year old with ADA deficiency doing well on Adagen who has progressive hearing loss. I know that this is a recognized association. He is getting a cochlear implant and the otologist has made a diagnosis of otic neuropathy. Is the pathogenesis of hearing loss in ADA deficiency known? Is there any suggestion of autoimmunity as a cause?
Thanks,
Richard Wasserman

--
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788<tel:%28972%29%20566-7788>
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--
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211
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