[CIS PIDD] [cis-pidd] Shwachman with HLH?

[Nacho Gonzalez]

Dear Anders,

have you ruled out PVB19 infection? It has been reported in SDS in a
patient similar the one you have described:
http://www.ncbi.nlm.nih.gov/pubmed/8940740

Do you have sCD25? With previous hypertransaminasemia and orgoing blood
transfusions ferritin may not reflect immunedysregulation, just iron
overload.

Hope this helps

Luis Ignacio Gonzalez-Granado
Immunodeficiencies & Pediatric Infectious Diseases Unit
Pediatric Hematology & Oncology Unit
Hospital 12 octubre
Madrid. Spain

2015-08-14 19:50 GMT+02:00 Anders Fasth <anders at fasth.com>:

> Dear All,
> I would appreciate greatly your comments and advice on the following case.
> A girl born at the end of May 2015, (2.5 mo old), who is compound
> heterozygous for the *SDS* gene found on WES and confirmed today with
> Sanger on her and her parents. Only child. Lithuanian and Swedish parents
>
> She was admitted last days in June with septicemia with septic metastasis
> in her faces. Blood cultures were unfortunately taken after i.v.
> antibiotics. She was found to be profoundly neutropenic and anemic but with
> normal platelets. And slightly increased liver transferases and
> triglycerides. Plus ferritin 1800. HLH was suspected but functional test
> came out negative or borderline. She recovered quickly. As the marrow
> aspiration showed markedly diminished myelopoiesis she was given G-CSF with
> prompt normalization of her neutrophils. WES was done and excluded FHL but
>  gave the dx Shwachmann Diamond. In the meantime, elastase in feces was
> found to be low. She is also shorter than expected.
>
> She is on prophylaxis with Bactrim and itraconazole. Still she had a
> perianal abscess.
>
> But since 14 days ago she is unresponsive to G-CSF and is transfusion
> dependent with no reticulcytes. A new marrow shows virtually only mature
> granulocytes, no early stages, and very poor erythropoesis, normal
> lymphopoiesis and trombocytopoiesis. And her ferritin remains high around
> 1800 - no tendency to go up or down during her 7 weeks of disease. No fever
> except during her septicemia and mild increase when she had her perianal
> abscess.  In the last days also a tendency to slowly declining platelets -
> right now around 148 x 10E9/L
>
> It seems as she has some kind of  "HLH light”. Do you agree? Also, do you
> agree that we should transplant her very soon.
> Any comments and suggestions is highly appreciated. None of our previous
> Shwachman patients had a similar course.
>
> Anders
>
> Anders Fasth, MD, PhD
> Professor of Pediatric Immunology,
> Dept of Pediatrics, University of Gothenburg
> Address: The Queen Silvia Children’s Hospital,
> SE-416 85 Göteborg, Sweden
> Tel +46-31-343 5220 (343 4000 switchboard)
> Mobile +46-70-0852717 (work)
> Mobile +46-70-687 5970 (private)
> Fax +46-31-707 0694
>
>
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