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

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What is IgE level? Does he have rash, dermatitis? 

Elif

Elif Dokmeci

On Feb 25, 2013, at 2:06 PM, <Mel.Berger at cslbehring.com> wrote:


> 

> 

> 

> 

> 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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