[CIS PIDD] [cis-pidd] CD40L defect carrier detection

Wed Jun 15 14:46:54 EDT 2016

Maite brings up an excellent point.

We have one symptomatic female carrier of XHIGM who has CVID-like disease, and no abnormal lyonization.  Wondering if this is fairly common?

Best
Mike

Michael D. Keller, MD

Assistant Professor, Division of Allergy / Immunology

Center for Cancer and Immunology Research

Jeffrey Modell Diagnostic and Research Center for

Primary Immunodeficiency Disorders

Children's National Health System

111 Michigan Ave NW, M7745A

Washington, DC 20010

Clinic: 202.476.3016

Office: 202.476.5843

Fax: 202.476.2280

www.ChildrensNational.org

________________________________
From: CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Wednesday, June 15, 2016 2:39 PM
To: CIS-PIDD
Subject: RE: [cis-pidd] CD40L defect carrier detection

I agree with all, targeted gene testing is easiest and turnaround time is fast
Ethics of when to test of a subject of debate

If the patient does not have insurance, some commercial labs may have assistance programs including free of charge

Below are two historical papers that Troy Torgerson pointed out to me not too long ago on carriers of  XHIGM boys
de Saint Basile G, Tabone MD, Durandy A, Phan F, Fischer A, Le Deist F. CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization.<https://urldefense.proofpoint.com/v2/url?u=http-3A__www.ncbi.nlm.nih.gov_pubmed_9933119&d=CwMGaQ&c=Zoipt4Nmcnjorr_6TBHi1A&r=mERX_I8PKb0Uil9coedoT1CtvFqkSey45L0vbcX0oKI&m=KqMyAZIcc37ohGLsMnFgq8XNbgzUmXEc12BtMAgyGtA&s=EWxeSsR-4-XzfEKmZZbJ-M7SVyXG6g_n9_uxLvqKN1w&e=>Eur J Immunol. 1999 Jan;29(1):367-73.PMID:9933119

Hollenbaugh D, Wu LH, Ochs HD, Nonoyama S, Grosmaire LS, Ledbetter JA, Noelle RJ, Hill H, Aruffo A. The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.<https://urldefense.proofpoint.com/v2/url?u=http-3A__www.ncbi.nlm.nih.gov_pubmed_7518839&d=CwMGaQ&c=Zoipt4Nmcnjorr_6TBHi1A&r=mERX_I8PKb0Uil9coedoT1CtvFqkSey45L0vbcX0oKI&m=KqMyAZIcc37ohGLsMnFgq8XNbgzUmXEc12BtMAgyGtA&s=0E8MKhumvgVs7je2kBFqjtCMbr94n1OE1RoToVOqkDo&e=>J Clin Invest. 1994 Aug;94(2):616-22.PMID:7518839

Best regards
Maite

Maite de la Morena, MD
Professor of Pediatrics  and Internal Medicine
Division of Allergy and Immunology
University of Texas Southwestern Medical Center in Dallas
5323 Harry HInes Blvd
Dallas, Texas 75390-9063
Phone 214 456-5161
Fax: 214 456-8317
Email: maite.delamorena at utsouthwestern.edu

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Tuesday, June 14, 2016 8:52 PM
To: CIS-PIDD
Subject: [cis-pidd] CD40L defect carrier detection

I follow a young boy with HIGM with the following mutation: g3715C>A in Exon 2 (Genbank EF064753) of CD10L. He now has a new sister. What is the easiest way to test her for carrier status?
Thanks,
Richard Wasserman

--
Richard L. Wasserman, MD, PhD
Allergy Partners of North Texas
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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