[CIS PIDD] [cis-pidd] Difficult patient

[Routes, John]

Dear Joe
I doubt the patient has CVID but rather steroid induced hypogammaglobulinemia andpulmonary and CNS sarcoidosis

I believe you need to consider a steroid sparing regimen----would go back to the biopsy and determine if B cells are present----(would look in pulmonary biopsy as well as you are using this as a surrogate for the CNS disease)--Assuming B cells are present, would consider the use of infliximab with MMF (or other cytotoxic depending on how sick such as azathioprine or cyclosphosphamide)----see Moravan M, Segal B M. Treatment of CNS sarcoidosis with infliximab and mycophenolate mofetil. Neurology 2009; 72: 337-340: 241-246

one could try hydroxychlorquine (but doubt it will be effective)

good luck
Jack





John M. Routes, MD
Chief, Section of Allergy and Clinical Immunology
Co-Director, Clinical and Translational Science Institute of Southeast WI
Professor of Pediatrics, Medicine, Microbiology and Molecular Genetics
Department of Pediatrics
Children's Hospital of Wisconsin
Medical College of Wisconsin
9000 W. Wisconsin Ave.
Milwaukee, WI  53226-4874

Phone: 414-266-6840 (Administrative Assistant)
Phone: 414-456-4802 (Office)
Fax: 414-456-6487 (Clinical)
Fax: 414-456-6323 (Laboratory)
Email: jroutes at mcw.edu




________________________________
From: "Dr. Carsten Speckmann" <carsten.speckmann at uniklinik-freiburg.de>
Reply-To: CLINICAL IMMUNOLOGY LISTSERV <cis-pidd at lists.clinimmsoc.org>
Date: Mon, 26 Nov 2012 17:48:44 +0100
To: CLINICAL IMMUNOLOGY LISTSERV <cis-pidd at lists.clinimmsoc.org>
Subject: Re: [cis-pidd] Difficult patient

  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> <mailto: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> <mailto:JChurch at chla.usc.edu>
 Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> <mailto: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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