[CIS-PAGID] Tough case. Need for your help

[Jyonouchi, Soma C]

Do you have results for any of the following laboratory study results available for this patient?

- Triglyceride
- Fibrinogen
- Ferritin
- NK functional assay
- Liver enzymes
- PT/PTT

SJ

________________________________
From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho Gonzalez [nachgonzalez at gmail.com]
Sent: Thursday, August 04, 2011 4:30 AM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] Tough case. Need for your help

Dear Colleagues,


We are concerned  about a 14 month old female who seems to suffer from ALPS but so far all studies have ruled out this condition. Clinical picture began at around 6 months of age with failure to thrive with massive hepatosplenomegaly. Since then the patient has kept hepatoesplenomegaly, hypergammaglobulinemia ( IgG 3.7 g/L, IgA 0.06 g/L, IgM 1.2 g/L), chronic anemia and thrombocytopenia. Clinical course of the disease is chronic and fluctuating with remission and exacerbation of signs and symptoms. She has never had any fever or infectious disease. The patient doesn´t have any lymphadenopathy. In the last months she has developed a slight strabismus.  Immunological studies have shown normal lymph subsets (double negative Tab cells 3%  -Normal upper limit for our lab 4%-). Apoptosis assays have been normal (Fas and FasL mediated apoptosis have been normal).
Bone marrow aspiration and biopsies have revealed a normal distribution of haematological series with slight increase of  B cells in different maturation stage. Spleen bx has revealed  a mixed population composed of  T and B cells (57%T, normal CD4/CD8, 10% NK cells, 33% policlonal B cells). Seric IL-10 is 22 (upper limit 20). CD25s 11430 pg/mL.
Metabolic storage diseases have been r/o even after enzymatic assays from skin biopsy. Funduscopy is normal. Skeletal series have been normal as well.


Please let us know if you have any suggestion to diagnose this patient. If you need any  additional data do not hesitate to ask for it.


Thanks for your time,



Jesus Ruiz Contreras
Luis Ignacio Gonzalez Granado
Paediatrics. Hospital 12 octubre. Madrid. Spain
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