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

[Laia Alsina Manrique de Lara]

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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