[CIS PIDD] [cis-pidd] Difficult patient
Dr. Carsten Speckmann
carsten.speckmann at uniklinik-freiburg.de
Mon Nov 26 11:48:44 EST 2012
We have seen CNS lesion (however rather resembling vasculitis like
lesions) and hypogamma in atypical FHL. have you checked degranulation
of NKs?
1. Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, et
al.
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in
UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Haematologica 2010;95:2080–7.
--
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany
Am 26.11.12 17:06, schrieb Jyonouchi, Soma C:
> We have seen a xlp patient who presented with brain lesions as a
> teenager. It would be worth sending sap and xiap flow on your pt given
> the lesions and hypogam.
>
> Sj
>
> *From*: dmvascon at usp.br [mailto:dmvascon at usp.br]
> *Sent*: Monday, November 26, 2012 10:51 AM
> *To*: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
> *Subject*: Re: [cis-pidd] Difficult patient
>
> Hi Joe, good afternoon
>
> I have seen two patients with CNS manifestations in the context of CVID.
>
> The first of them is a young female sent to evaluation of ALPS: she
> had Evans syndrome and high double-negative T cells; she presented low
> levels of all Ig isotypes and improved after IVIg replacement (500
> mg/kg/month). One year later she developed hemiparesthesia and
> hemiparesis diagnosed as CNS vasculitis by brain biopsy. After high
> dose steroids and IVIg for 5 months she improved and is now alive and
> well, without relapse of CNS disease.
>
> The second one was previously diagnosed as CVID and started to present
> seizures and localization signs, diagnosed as ADEM. She was treated as
> for herpesvirus and immunosuppressed improving for approximately one
> year and later started to present neurodegenerative features evolving
> to death.
>
> There are some cases of "sarcoid" manifestations of CVID in CNS.
> In some cases of "sarcoid" manifestations in the lungs and lymphnodes
> I tried to use hydroxychloroquine (400 mg/day), as suggested by
> Charlotte Cunningham-Rundles, with good responses in three cases.
>
> Best regards,
>
> Dewton
>
>
> Dewton de Moraes Vasconcelos
> University of São Paulo School of Medicine
>
> ------------------------------------------------------------------------
>
> *De: *"Joseph Church" <JChurch at chla.usc.edu>
> *Para: *"CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>
> *Enviadas: *Segunda-feira, 26 de Novembro de 2012 13:11:45
> *Assunto: *[cis-pidd] Difficult patient
>
> Colleagues:
>
> I saw a 16yo boy with recurrent brain lesions and miliary lung
> nodules; he may have ”CVID."
>
> * 2004: headache + vomiting. Brain CT and f/u MRIs
> demonstrated enhancing mass 3x2.5.2.5cm right occipital
> lobe. Pt treated with steroids for symptoms; ~3days later
> brain biopsy demonstrated T-cell infiltrative process
> _without_ granulomas or clonal expansion . Further steroid
> therapy was associated with disappearance of lesion.
> * 9/2006: headaches. MRI showed 3+ cm area of decreased
> attenuation right cerebellum. Bx NOT repeated. Neurologist
> considered process to be same as lesion of 2004. Rx'd with
> steroids.
> * 11/2006: Incidental lung lesions noted at scanning. CT
> then demonstrated multiple, diffuse nodules 1 to 6 mm in
> size throughout lungs. Biopsy showed non-caseating
> granulomas. Improved with steroids given for brain. (Also,
> incidental horseshoe kidney noted.)
> * 11/2006: IgG 334, IgA 44, IgM 51, IgE 339.
> * 12/2006: Poor antibody responses to Pneumovax and IVIG
> started. Methotrexate given for brief (?) time.
> * 1/2010: Brain lesions progressed; steroid increased, then
> tapered
> * 4/2012: Brain lesions again progressed; stereoids
> increased, now tapering
> * Current: Continues to require systemic steroids to control
> recurrences of brain lesions; osteopenia, cushinoid, acne,
> 4+ striae.
>
> Extensive evaluations for infectious and autoimmune etiologies
> have not documented a unifying diagnosis. I have a notebook
> (literally) of details.
>
> Given the very long term steroid therapy, I would guess that if
> the process were infectious he would not be alive.
>
> It is tempting to relate the brain and lung lesions to the
> granulomatous process associate with CVID. EXCEPT the brain
> lesions, at the time of biopsy in 2004, were not granulomatous.
> Does this matter?
>
> Is the brain process consistent with sarcoidosis?
>
> Regardless, I think he needs more than steroids for the process.
>
> Any thoughts would be most welcome.
>
> Joe Church
>
> Children's Hospital Los Angeles
>
>
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phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de
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