[CIS PIDD] [cis-pidd] patient with no CD40L expression

[Dr. Carsten Speckmann]

Dear Laia,

was CD40L upregulation completely lacking or reduced?
Did you check for the upregulation of other early T cell activation 
markers (e.g. CD25, OX40) to differentiate whether your patient has an 
isolated CD40L problem vs. a broader problem in T cell activation?

Kind regards, Carsten

-- 
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de




Am 25.02.13 23:53, schrieb Prescott Atkinson, M.D.:

> Hi Laia:  Was proliferative response to PMA/ionomycin checked? That is often the stimulus used to induce CD154 expression.   If defective, that might explain the failure to express CD40-L and suggest a deeper signaling defect.

>

> T. Prescott Atkinson, MD PhD, Professor and Director

>

> Division of Pediatric Allergy, Asthma & Immunology

>

> University of Alabama at Birmingham

>

> Tel: 205-939-9072

>

> Fax: 205-975-7080

>

> ________________________________________

> From: Mel.Berger at cslbehring.com [Mel.Berger at cslbehring.com]

> Sent: Monday, February 25, 2013 3:06 PM

> To: CIS-PIDD

> Subject: Re: [cis-pidd] patient with no CD40L expression

>

> On Jan 30, 2013, at 10:43 AM, "Dewton USP" <dmvascon at usp.br<mailto:dmvascon at usp.br>> wrote:

>

> Dear Laia

>

> Another disease with low expression of CD40L is ICOS deficiency, as ICOS is upstream to CD40L in its signaling pathway.

>

> Best,

>

> Dewton

>

> Dewton de Moraes Vasconcelos

> University of São Paulo School of Medicine

>

> Laia Alsina Manrique de Lara wrote:

>

> Dear all,

>

> I am contacting you regarding a 6-month old male with a congenital secretory diarrhoea (starting at 2 weeks of life) and hipogammaglobulinemia (detected at 2 weeks of life with absent IgG, low IgA that normalized at 4 months, and low IgM). Normal albumin, and no protein loss in stools or urine. Extensive microbiological studies have ruled out any viral, paratitic or bacterial gut infection.

>

> IMMUNE WORKUP:

> T and B cell phenotyping with no significant defects:

> Absloute lymphocytes: 3500/mm3.

> CD3+:   61,7% (49-85%)

> CD3+CD4+: 48,6% (27-60%)

> CD3+CD8+: 10,3% (10-55%)

> CD19+: 23% (4-50%)

> NK CD16-56+: 12,7% (2-36%)

> Extended T and B cell phenotyping:

> T cells alfa/beta: 92,3% (39-94%)

> T cells gamma/delta: 3,6% (0,9-10%)

> CD3+CD45RA+: 83% (56-95%)

> CD3+CD45RO+: 12% (2-15%)

> B cells IgM/IgD+: 91,9% (82-98%)

> B cells IgD-: 8,1% (2-15%)

> B cells IgD-CD27-: 0,8% (0,3-6%)

> Bcells IgD+CD27+: 21,3% (5-50%)

> Bcells IgM-CD38++: 2,9% (0-7%)

>

> Proliferative responses to mitogens: normal proliferation to PWM, no proliferation to PHA and ConA

>

>

>

> CD40L induction after 24h: 1,3% (5-20%).

>

> Sanger sequence for CD40L shows no mutation. The sequence includes promoter regions.

>

>

> My question is:

> -which T cell deficiencies other than X-HIM could show low CD40L induction and this clinical phenotype?

>

> We suspect a primary defect in Na+/proton transporter explaining the congenital secretory diarrhoea. Could this ion transport defect explain the primary T cell activation defect (no proliferative response to mitogens).

>

> Thank you in advance,

>

>

> Dra. Laia Alsina

> Sección de Alergia e Inmunología Clínica

> Hospital Sant Joan de Déu

> Passeig Sant Joan de Déu nº2

> 08950 Esplugues de Llobregat, Barcelona

> +34932804000 ext 3330

>

> ________________________________

> No imprimir aquest correu ajudarà a preservar el medi ambient.

> Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut. Està prohibida la distribució no autoritzada del contingut d'aquest missatge.

>

> No imprimir este correo ayudará a preservar el medio ambiente.

> Si usted no es el destinatario del mensaje, o lo ha recibido por error, notifíquelo por favor al remitente y destruya el mensaje con todo su contenido. Está prohibida la distribución no autorizada del contenido de este mensaje.

>

> ---

>

> The CIS-PIDD listserv is supported by:

>

> [http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]

> The science & practice of human immunology

>

> P: +1.414.224.8095

> E: <mailto:info at clinimmsoc.org> info at clinimmsoc.org<mailto:info at clinimmsoc.org>

>

> Not a member of CIS? Please visit <https://cis.execinc.com/edibo/Signup> www.clinimmsoc.org<http://www.clinimmsoc.org> to join!

>

> You are currently subscribed to cis-pidd as: <mailto:dmvascon at usp.br> dmvascon at usp.br<mailto:dmvascon at usp.br>.

> To unsubscribe click here: <http://lm.clinimmsoc.org/u?id=183824445.7c17faf92455fedf52e07cbdec8fae72&n=T&l=cis-pidd&o=42644893> http://lm.clinimmsoc.org/u?id=183824445.7c17faf92455fedf52e07cbdec8fae72&n=T&l=cis-pidd&o=42644893

>

>    ­­

>

> ---

>

> The CIS-PIDD listserv is supported by:

>

> [http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]

> The science & practice of human immunology

>

> P: +1.414.224.8095

> E: <mailto:info at clinimmsoc.org> info at clinimmsoc.org<mailto:info at clinimmsoc.org>

>

> Not a member of CIS? Please visit <https://cis.execinc.com/edibo/Signup> www.clinimmsoc.org<http://www.clinimmsoc.org> to join!

>

> You are currently subscribed to cis-pidd as: <mailto:dmvascon at usp.br> dmvascon at usp.br<mailto:dmvascon at usp.br>.

> To unsubscribe click here: <http://lm.clinimmsoc.org/u?id=183824445.7c17faf92455fedf52e07cbdec8fae72&n=T&l=cis-pidd&o=42644893> http://lm.clinimmsoc.org/u?id=183824445.7c17faf92455fedf52e07cbdec8fae72&n=T&l=cis-pidd&o=42644893

>

>

> ---

>

> The CIS-PIDD listserv is supported by:

>

> [http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]

> The science & practice of human immunology

>

> P: +1.414.224.8095

> E: <mailto:info at clinimmsoc.org> info at clinimmsoc.org<mailto:info at clinimmsoc.org>

>

> Not a member of CIS? Please visit <https://cis.execinc.com/edibo/Signup> www.clinimmsoc.org<http://www.clinimmsoc.org> to join!

>

> You are currently subscribed to cis-pidd as: <mailto:mel.berger at cslbehring.com> mel.berger at cslbehring.com<mailto:mel.berger at cslbehring.com>.

> To unsubscribe click here: <http://lm.clinimmsoc.org/u?id=183824392.4a5e4b979d2e59f93eea8a6e1962edf8&n=T&l=cis-pidd&o=42645332> http://lm.clinimmsoc.org/u?id=183824392.4a5e4b979d2e59f93eea8a6e1962edf8&n=T&l=cis-pidd&o=42645332

>

> This email, including any attachments, is confidential and contains proprietary content and may be legally privileged. This transmission is intended only for the designated recipient(s), and any duplication or distribution, in any form or part, without the written consent of the sender is strictly prohibited. These confidentiality protections apply even if you received this transmission in error, in which case you should delete the message, disregard its contents and notify the sender of the mistake. CSL Behring

>

> ---

> The CIS-PIDD listserv is supported by the Clinical Immunology Society

> The science & practice of human immunology

>

> P: +1.414.224.8095

> E: info at clinimmsoc.org

>

> Not a member of CIS? Please visit www.clinimmsoc.org to join!

>

> You are currently subscribed to cis-pidd as: patkinson at peds.uab.edu.

> To unsubscribe click here: http://lm.clinimmsoc.org/u?id=188272311.ffbc45cef69df951d7852b70c6440f49&n=T&l=cis-pidd&o=42857947

> or send a blank email to leave-42857947-188272311.ffbc45cef69df951d7852b70c6440f49 at lists.clinimmsoc.org

>

> ---

> The CIS-PIDD listserv is supported by the Clinical Immunology Society

> The science & practice of human immunology

>

> P: +1.414.224.8095

> E: info at clinimmsoc.org

>

> Not a member of CIS? Please visit www.clinimmsoc.org to join!

>

> You are currently subscribed to cis-pidd as: carsten.speckmann at uniklinik-freiburg.de.

> To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183824763.5f364cefbfb582ee981d7d49949cd0d8&n=T&l=cis-pidd&o=42858671

> or send a blank email to leave-42858671-183824763.5f364cefbfb582ee981d7d49949cd0d8 at lists.clinimmsoc.org



-- 
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de


---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=42858857
or send a blank email to leave-42858857-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org