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

[Ramsay L Fuleihan]

Dear Laia,

This is a very interesting patient.  How are the cells stimulated in the CD40 ligand assay and do his T cells express other stimulation markers?  You may want to check T cell proliferation to PMA and ionomycin, if it is normal, then he may have a proximal signaling defect, otherwise a more distal defect.

Best,

Ramsay

Ramsay Fuleihan, MD
Associate Professor of Pediatrics
Northwestern University's Feinberg School of Medicine
Division of Allergy & Immunology
Ann & Robert H. Lurie Children’s Hospital of Chicago
225 E. Chicago Avenue Box # 60
Chicago, IL 60611
Tel:     312-227-6010
Fax:    312-227-9401
e-mail: r-fuleihan at northwestern.edu<x-msg://308/Documents%20and%20Settings/rfuleiha/Application%20Data/Microsoft/Signatures/r-fuleihan@northwestern.edu>
rfuleihan at luriechildrens.org<mailto:rfuleihan at luriechildrens.org>
www.luriechildrens.org<http://www.luriechildrens.org/>


On Jan 30, 2013, at 9:17 AM, Laia Alsina Manrique de Lara <lalsina at hsjdbcn.org<mailto:lalsina at hsjdbcn.org>> 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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