[CIS PIDD] [cis-pidd] patient with no CD40L expression
Mel.Berger at cslbehring.com
Mel.Berger at cslbehring.com
Thu Feb 28 13:15:15 EST 2013
You may be interested in the report of a case with similar lab results: Sorensen, RU et al. Journal of Pediatrics, 121: 873-879, 1992. (Unfortunately, I do not have a PDF): "Cryptococcal osteomyelitis and cellular immunodeficiency associated with IL-2 deficiency". That patient's lymphocytes responded to mitogens only in the presence of exogenous IL-2, which also increased CD25 expression. Interestingly, that patient did fairly well but seemed to have what we might now call a Th-2 deviation of his immune system, with allergic rhinitis and nasal polyps.
Mel Berger
-----Original Message-----
From: Laia Alsina Manrique de Lara [mailto:lalsina at hsjdbcn.org]
Sent: Tuesday, February 26, 2013 11:12 AM
To: CIS-PIDD
Subject: RE: [cis-pidd] patient with no CD40L expression
Dear all,
Thanks for your nice comments and suggestions: here are the results of new activation and proliferation evaluation on lymphocytes from this patient:
-PROLIFERATION STUDIES (CFSE 7 days)
--PMA + ionomycin: normal.
--PHA: <20% --> rescued (>50%) if IL-2 (5U/ml) is added.
--PWM: normal.
--CD3+CD28+: <20% --> rescued (>50%) if IL2 is added.
-ACTIVATION STUDIES (induction of CD69 (3-6h), CD40L (24h), shedding CD62L (1h) with PHA, PWM, PMA/iono: normal, idem with and without IL-2.
Thus, the suspected deficiency is a defect in IL-2 production that limits T cell proliferation.
We are now measuring IL-2 mRNA and protein to check for this hypothesis.
We are still unable to find an explanation for this T cell deficiency and the congenital secretory diarrhoea of the patient.
Any further suggestions regarding studies/patient management (the patient on IGIV and Co-trimoxazole with no infections).
Thank you ,
Laia
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
________________________________________
De: Dr. Carsten Speckmann [carsten.speckmann at uniklinik-freiburg.de]
Enviado el: martes, 26 de febrero de 2013 0:35
Para: CIS-PIDD
Asunto: Re: [cis-pidd] patient with no CD40L expression
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
>
> ________________________________
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--
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
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