[CIS PIDD] [cis-pidd] CVID

[wolska]

HiDid you analyzsed her lymphocyte profle more deeply fe.   CD31+ thymic emigrants,, TCR alfebeta/ gamma delta,, memory and virigin RO RA CD4/CD8 cells?Did you peroform any genetic analysis. fe RAG 1/RAG2  deficiency-- Beata WolskaDepartment of ImmunologyChildren's Memorial Health InstituteAv. Dzieci Polskich 2004-760 Warsaw, POLANDtel. + 48 22 815 73 84fax. + 48 22 815 73 82bwolska at interia.plOd: "David Buchbinder" <dbuchbinder at CHOC.ORG>Do: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>; Wysłane: 19:22 Poniedziałek 2014-11-10Temat: Re: [cis-pidd] CVIDI greatly appreciate all of the suggested targets.  I will let you all know how things turn out.
 
Dave>>> "Rosenzweig, Sergio (NIH/CC/DLM) [E]" <srosenzweig at cc.nih.gov> 11/10/2014 6:50 AM >>>Hi Dave,I agree with most of the suggestions, especially with the CTLA4 approach. The only other differential I'd add is CASP8: we have recently identified 2 adult pts with CASP8 deficiency that share several characteristics with the CTLA4 cohort.Good luck,SergioSergio D. Rosenzweig, MD, PhDPrimary Immunodeficiency Clinic (PID-C), NIHFrom: David Buchbinder <dbuchbinder at CHOC.ORG<mailto:dbuchbinder at CHOC.ORG>>Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>Date: Monday, November 10, 2014 1:03 AMTo: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>Subject: Re: [cis-pidd] CVIDDear Colleagues,I saw a 22 year old diagnosed with "CVID" that I thought I would ask for your thoughts on....She began to vision issues at 13 years of age and was diagnosed with papiledema bilaterally.  Imaging of her CNS was completed documenting "mass like" lesions with surround vasogenic edema.  Over the years these appear to have come and gone with responses to immunosuppressants.  These have been severe enough to require intubation, ICP monitoring, manitol, etc.  Eventually, she underwent a brain biopsy that disclosed "CNS vasculitis".   In terms of additional immunedysregulation, she also has a history of autoimmune cytopenias (AIHA, ITP, etc.).  Her chest CT also disclosed evidence of adenopathy (hilar, mediastinal) as well as some nodular infiltrates.  A wedge biopsy documented "folicular bronchiiolitis".  She also has a history of hypogammaglobulinemia with a low IgA (<7) and low IgG (210).  Her IgM is fine and her IgE is not elevated.  Vaccine titers are pending.  Her eosinophil counts have largely been normal (very rarely elevated).  She has been maintained on a variety of immunosuppressant drugs in the distant past (e.g. cytoxan, rituximab, corticosteroids, etc.).  She has demonstrated evolving lymphopenia as well with a CD3 absolute count of 304, CD4 absolute count of 190, CD8 absolute count of 86, NK absolute count of 33.  Mitogen testing is pending.  Testing for autoantbodies (e.g., ANCA, etc.) have always been negative.   We entertained the diagnosis of Churg-Strauss, but I thought I would see if anybody else has any other thoughts on the profound immunedysregulation in this patient.Thanks,DaveDavid Buchbinder, MDDivision of HematologyCHOC Children's HospitalCHOCLX-MGSM made the following annotations---------------------------------------------------------------------Sun Nov 09 2014 22:03:49This email message and any files transmitted are sent with confidentiality in mind and contain privileged or copyright information. You must not present this message to another party without gaining permission from the sender. If you are not the intended recipient you must not copy, distribute or use this email or the information contained in it for any purpose other than to notify Children's Hospital of Orange County. Any views expressed in this message are those of the sender, except where the sender specifically states them to be the views of Children's Hospital of Orange County. If you have received this message in error, please notify the sender immediately, and delete this email from your system. We do not guarantee that this material is free from viruses or any other defects although due care has been taken to minimize the risk.------------------------------------------------------------------------The CIS-PIDD listserv is supported by:[http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]The science & practice of human immunologyP: +1.414.224.8095E: info at clinimmsoc.org<mailto:info at clinimmsoc.org>Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup> to join!You are currently subscribed to cis-pidd as: srosenzweig at cc.nih.gov<mailto:srosenzweig at cc.nih.gov>.To unsubscribe click here: http://lm.clinimmsoc.org/u?id=207736502.dbed1e35a2a023491d9cd5e9046c558b&n=T&l=cis-pidd&o=45720889---The CIS-PIDD listserv is supported by the Clinical Immunology SocietyThe science & practice of human immunologyP: +1.414.224.8095E: info at clinimmsoc.orgNot a member of CIS? Please visit www.clinimmsoc.org to join!You are currently subscribed to cis-pidd as: dbuchbinder at choc.org.To unsubscribe click here: http://lm.clinimmsoc.org/u?id=203702750.c3d55ad2b6251a0fac46018ae4977b01&n=T&l=cis-pidd&o=45722186or send a blank email to leave-45722186-203702750.c3d55ad2b6251a0fac46018ae4977b01 at lists.clinimmsoc.org

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