[CIS PIDD] [cis-pidd] Hyper IgM

Wed May 4 10:05:26 EDT 2016

I saw a similar patient like this but different gene mutation, in our patient CD40L expression was normal but function was abnormal and we are able to do CD40L binding assay which was done at Seattle children’s hospital and at that time Dr.Torgerson helped us with the process. Here is the website link for the test. http://www.seattlechildrens.org/healthcare-professionals/access-services/diagnostic-services/laboratories/immunology-diagnostic-laboratory/functional-tests/

Here is the case report: Katta A, Hong J, Knutsen AP. Hyper immunoglobulin M syndrome in a 15-year-old boy caused by a Gly219Arg missense mutation. Ann Allergy Asthma Immunol. 2013 May;110(5):391-3. 

Hope that helps.

Anilkumar Katta, M.D.

Clinical Asst. Professor of Medicine, Tufts University School of Medicine,

Department of Allergy and Immunology, Lahey Hospital and Medical Center,

31 Mall Rd., Burlington, MA - 01805.

Phone: 781-744-8442.

Fax: 781-744-3442.

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
Sent: Tuesday, May 03, 2016 11:40 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] Hyper IgM

CD40L expression can be normal in 5 to 10% of children with X linked Hyper IgM. However, the CD40L expressed is abnormal and does not bind to CD40. You could test this with CD40Ig staining and if this is absent, you would know that the mutation leads to an abnormal CD40L which does not bind to CD40. 

Regards,

Amit Rawat

--

Dr. Amit Rawat MD (Pathology) PDCC (Laboratory Immunology) PDCC (Nephropathology) MAMS

Additional Professor, Paediatric Allergy & Immunology Unit

Department of Paediatrics, Advanced Paediatric Centre

Postgraduate Institute of Medical Education & Research

Sector 12, Chandigarh 160012.

Phone: +91-172-2755682 (Off), +91-99-14208486 (Mob) 

Email: rawatamit at yahoo.com <mailto:rawatamit at yahoo.com> , amitrawat2002 at rediffmail.com <mailto:amitrawat2002 at rediffmail.com> 

________________________________

From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
To: CIS-PIDD <cis-pidd at lyris.dundee.net> 
Sent: Wednesday, May 4, 2016 2:16 AM
Subject: RE:[cis-pidd] Hyper IgM

I have not spoken with him in a few years, but Ash Jain at the NIH was studying Hyper IgM , he may be able to answer your question. Email address I have is AJain at niaid.nih.gov<mailto:AJain at niaid.nih.gov>

Good luck,

Paul

Paul J Dowling, MD
Director, Allergy/Immunology Fellowship Program
Associate Professor, Dept. of Pediatrics
University of Missouri - Kansas City
Children's Mercy Hospitals and Clinics

________________________________
From: CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Tuesday, May 03, 2016 3:22 PM
To: CIS-PIDD
Subject: [cis-pidd] Hyper IgM

*** This message was sent to you from an External Source. Please do not open untrusted links or attachments. ***
________________________________

Hi all:

I have an 18yo male patient with a mutation in CD40L c.256G>A that is reported as unknown significance. He has normal CD40L expression by flow. I found one report from Boston Children’s (Ramesh N et al. 1995 Human Molecular Genetics) that suggested that this mutation led to aberrant splicing ultimately causing a deletion. Their patient had loss of CD40L expression in PBMC’s.

This mutation would somewhat fit my patient’s phenotype.

Has anyone seen this with Hyper IgM?

Thanks,

Jen Leiding
Jennifer Leiding, MD
Assistant Professor
University of South Florida
Department of Pediatrics
Division of Allergy, Immunology, and Rheumatology
Children’s Research Institute
140 – 7th Avenue South Box 9680
St. Petersburg, Florida 33701
Phone: 727.553.1304
Fax: 727.553.1295

---

You are currently subscribed to cis-pidd as: pdowling at cmh.edu<mailto:pdowling at cmh.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396843.e00a4d1a82cbf179b5d820485722c855&n=T&l=cis-pidd&o=3622123 <https://urldefense.proofpoint.com/v2/url?u=http-3A__cts.dundee.net_u-3Fid-3D96396843.e00a4d1a82cbf179b5d820485722c855-26n-3DT-26l-3Dcis-2Dpidd-26o-3D3622123&d=CwMFaQ&c=mLNPgKHx4J-iKlzX2GMoHFvr3_xqSCZA8BjFUsFWPt4&r=MdH0U6P9_jn42qvKYuO2TxkOeHSKWGSWrWAwp5482mI&m=-RWARhBsGqh3mQhNB_Ah5oXQ7QGn6kfQ57bEQ5lzzS4&s=EV23syH5FtK-RWOUlQROyRsvJi00rzfgNC9niGThISw&e=> <https://urldefense.proofpoint.com/v2/url?u=http-3A__cts.dundee.net_u-3Fid-3D96396843.e00a4d1a82cbf179b5d820485722c855-26n-3DT-26l-3Dcis-2Dpidd-26o-3D3622123&d=CwMFAg&c=Zl2T6vaIOSZ-iGixmidu-Jjpn1CKtCl7U5wJPI4UCTc&r=jBQLS-EsK9Ap1vIxUHkjsw&m=AlAfmE8EqyVccdZT4A5jZ5Tsd66bMP8HfO46jM3aIAc&s=fAkm64T9taaRQ5koI_ymZWouHv2Xfy4dg2Seu3H8WX4&e=>

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3622123-96396843.e00a4d1a82cbf179b5d820485722c855 at lyris.dundee.net<mailto:leave-3622123-96396843.e00a4d1a82cbf179b5d820485722c855 at lyris.dundee.net>

________________________________
Electronic mail from Children's Mercy Kansas City. This communication is intended only for the use of the addressee. It may contain information that is privileged or confidential under applicable law. If you are not the intended recipient or the agent of the recipient, you are hereby notified that any dissemination, copy or disclosure of this communication is strictly prohibited. If you have received this communication in error, please immediately forward the message to the Children's Mercy Information Security Officer via return electronic mail at informationsecurityofficer at cmh.edu and expunge this communication without making any copies. Thank you for your cooperation.

---
You are currently subscribed to cis-pidd as: rawatamit at yahoo.com.
To unsubscribe click here: http://cts.dundee.net/u?id=104312912.f40fdd03d83a39bdd576158d9bc74830&n=T&l=cis-pidd&o=3622164 <https://urldefense.proofpoint.com/v2/url?u=http-3A__cts.dundee.net_u-3Fid-3D104312912.f40fdd03d83a39bdd576158d9bc74830-26n-3DT-26l-3Dcis-2Dpidd-26o-3D3622164&d=CwMFaQ&c=mLNPgKHx4J-iKlzX2GMoHFvr3_xqSCZA8BjFUsFWPt4&r=MdH0U6P9_jn42qvKYuO2TxkOeHSKWGSWrWAwp5482mI&m=-RWARhBsGqh3mQhNB_Ah5oXQ7QGn6kfQ57bEQ5lzzS4&s=KWSdjVEB7vnFQfKWUfBKypfQpz95nMT-y0CDd4f3nas&e=> 
or send a blank email to leave-3622164-104312912.f40fdd03d83a39bdd576158d9bc74830 at lyris.dundee.net

---

You are currently subscribed to cis-pidd as: anilkumar.katta at lahey.org.

To unsubscribe click here: http://cts.dundee.net/u?id=104312910.ab7b89d15499b26a44349c2369fc689e&n=T&l=cis-pidd&o=3622759 <https://urldefense.proofpoint.com/v2/url?u=http-3A__cts.dundee.net_u-3Fid-3D104312910.ab7b89d15499b26a44349c2369fc689e-26n-3DT-26l-3Dcis-2Dpidd-26o-3D3622759&d=CwMFaQ&c=mLNPgKHx4J-iKlzX2GMoHFvr3_xqSCZA8BjFUsFWPt4&r=MdH0U6P9_jn42qvKYuO2TxkOeHSKWGSWrWAwp5482mI&m=-RWARhBsGqh3mQhNB_Ah5oXQ7QGn6kfQ57bEQ5lzzS4&s=Z2NmfeOdYpRvaaZ_e8XKBU6eRlmsw5U-EQjxqGgk-jE&e=> 

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3622759-104312910.ab7b89d15499b26a44349c2369fc689e at lyris.dundee.net

----------------------------------------------------------------------
See our web page at http://www.lahey.org for a full directory of Lahey sites, staff, services and career opportunities.

THIS MESSAGE IS INTENDED FOR THE USE OF THE PERSON TO WHOM IT IS ADDRESSED. IT MAY CONTAIN INFORMATION THAT IS PRIVILEGED, CONFIDENTIAL AND EXEMPT FROM DISCLOSURE UNDER APPLICABLE LAW. If you are not the intended recipient, your use of this message for any purpose is strictly prohibited. If you have received this communication in error, please delete the message and notify the sender so that we may correct our records.

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3623515
or send a blank email to leave-3623515-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160504/049f59fe/attachment-0001.html>