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

[Dr. Carsten Speckmann]

  Have you ruled out defective intrinsic apoptosis after IL2 withdrawal 
to rule out e.g. a NRAS/KRAS pathology?
If you like, we can help you with this. Carsten

Am 04.08.11 16:30, schrieb Nacho Gonzalez:

> Dear Soma and Christine, the patient doesn´t fit HLH criteria, even 

> she had *low *lipids. This is why we considered the possibility of 

> Niemann-Pick disease and every type has been r/o.

> Thanks again

>

> 2011/8/4 Ciaccio, Christina, E <ceciaccio at cmh.edu 

> <mailto:ceciaccio at cmh.edu>>

>

>     Yes, if familial hemophagocytic lymphohistiocytosis is suspected,

>     Cincinatti will run all of the genetics (Perforin, Munc, Syntaxin...)

>     http://www.cincinnatichildrens.org/svc/alpha/m/molecular-genetics/hlh-spec.htm

>     Chrissy

>

>     /Christina Ciaccio, M.D. /

>

>     Assistant Professor, Allergy/Immunology

>

>     University of Missouri-Kansas City

>

>     Children's Mercy Hospital and Truman Medical Center

>

>     Kansas City, Missouri  64108

>

>     816-234-3097 <tel:816-234-3097> (phone)

>

>     816-346-1301 <tel:816-346-1301> (fax)

>

>     ------------------------------------------------------------------------

>     *From:* pagid-bounces at list.clinimmsoc.org

>     <mailto:pagid-bounces at list.clinimmsoc.org>

>     [mailto:pagid-bounces at list.clinimmsoc.org

>     <mailto:pagid-bounces at list.clinimmsoc.org>] *On Behalf Of

>     *Jyonouchi, Soma C

>     *Sent:* Thursday, August 04, 2011 5:21 AM

>

>     *To:* pagid at list.clinimmsoc.org <mailto:pagid at list.clinimmsoc.org>

>     *Subject:* Re: [CIS-PAGID] Tough case. Need for your help

>

>     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

>     <mailto:pagid-bounces at list.clinimmsoc.org>

>     [pagid-bounces at list.clinimmsoc.org

>     <mailto:pagid-bounces at list.clinimmsoc.org>] On Behalf Of Nacho

>     Gonzalez [nachgonzalez at gmail.com <mailto:nachgonzalez at gmail.com>]

>     *Sent:* Thursday, August 04, 2011 4:30 AM

>     *To:* pagid at list.clinimmsoc.org <mailto: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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>

>



-- 
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de


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