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

[Oscar de la Calle-Martin]

Dear Laia,



He is a truly interesting patient, but I have several questions:



After stimulation, besides lack of CD40 ligand expression, other activation
markers were normal or absent? These would include CD25, CD69, CD71 and
HLA-class II. What do you use for stimulation?



The most strinking result is different response to mitogens (normal for
PWM, absent for the more conventional PHA and ConA). What about CD3 and
Superantigens?



Did the boy suffer any unusual infection during these months?



Best regards,



Oscar de la Calle


2013/1/30 Laia Alsina Manrique de Lara <lalsina at hsjdbcn.org>


>  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. Oscar de la Calle-Martín
Laboratoris, Planta -2, Bloc B,
Servei d'Immunologia, Hospital de Sant Pau
C/ San Quintin 89, E-08041 Barcelona, SPAIN
MOVIL SANT PAU 37386 / 682 745 510
93 553 7265 (SECRETARIA), 93 553 7386 / 93 553 7546 (DESPACHO)
odlcalle at gmail.com

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