[CIS-PAGID] Patient with suspected CID and recurrent HPV infection

[Michael Albert]

Dear Klaus,
Is CMX001 available for compassionate use.
That could be a neat therapeutic possibility for your patient.
Michael



PD Dr. med. Michael Albert

Oberarzt

Abteilung für Pädiatrische Hämatologie/Onkologie

Leiter der Stammzelltransplantation

Dr. von Haunersches Kinderspital der LMU

Lindwurmstr.4

80337 München

Tel: 089 5160 2785

Fax: 089 5160 4719

Am 07.02.2012 um 00:26 schrieb "Klaus Warnatz" <warnatze at t-online.de>:


> thanks that is a possibility which we have not actively excluded, no echo available so far, from the description immunoglobulin levels would be unusual and CD4 seemed less affected than CD8, but I agree that is a possibility 

> we will check and let you know. 

> Thanks!

> 

> Klaus

> 

> Am 06.02.2012 19:17, schrieb Nacho Gonzalez:

>> 

>> Dear Dr. Warnatz

>> Have you considered STK4 deficiency? Has the patient septal defects? (Klein Blood 2012)

>> I wouldn´t consider HSCT

>> No experience in treatment-resistant condylomata

>>  

>> Regards

>>  

>> Luis Ignacio Gonzalez Granado

>> Immunodeficiencies Unit

>> Hospital 12 octubre. Madrid. Spain

>> 

>>  

>> 2012/2/6 Klaus Warnatz <klaus.warnatz at uniklinik-freiburg.de>

>> Dear Colleagues,

>> We are seeing a 32y old male patient of non-consanguineous German descendant, no family history, with suspected combined immunodeficiency first diagnosis in 12/1995. He suffers from recurrent upper- and lower respiratory tract infections (improved under Ig substitution), recurrent anal/perianal condylomata and 2xherpes zoster (2004 and 2010). Recurrent autoimmune thrombopenia 12/95, cervical and abdominal lymphadenopathy,                         splenomegaly (EBV-, CMV-PCR negativ). Histology lymphnode: reticular histiocytic granuloma, reactive hyperplasia, polyclonal pattern, no sign of malignancy.

>> 

>> The immune phenotyping showed IgG (minimum 5.7, normal 7-16), low IgA and elevated polyclonal IgM (max 5.3g/l), normal IgE serum levels, normal vaccination response to Td, low but detectable anti PnPS. Elevated lymphoproliferative marker.

>> 

>> White blood cell counts 3.6-4.9/nl (normal 4.3-10). All lymphocyte subpopulations are slightly low including naïve CD4 (24% of CD4), normal gd T cells, normal T cell proliferation after PHA and CD3/28, upregulation of CD40L slightly reduced (normal upregulation of Cd25 and CD69), but no mutation in exons of CD40L detected. B cells: low class switched B cells, increased CD21low and transitional B cells (CD40 expression normal). Highly increased intravascular complement activation (C3d of 19 (<9mg/dl) and CH50 of 13 (>20U/ml).

>> 

>> ALPS diagnostics: dnTcells 3.5%, but normal Vit B12 and in vitro apoptosis.

>> 

>> Bone marrow 1996: no signs of myelokachexis, no further work up for WHIM.

>> 

>> Currently, the main problem are recurrent anal and perianal condylomata due to HPV 6 and 11 resistant to therapy with Imiquimod. After 7 operations no further operations are possible without risking loss of sphincter function. Virudermin (topical zink gel) was not well tolerated. An attempt of therapeutic HPV vaccination was performed but did not show a lasting effect.

>> 

>> Under IgG replacement therapy no further infections of the respiratory tract.

>> 

>> What would be your recommendation for further diagnostic work up?

>> 

>> And especially what would be your recommendation for treatment of the recurrent HPV infection. Due to flares of AI thrombopenia we were hesitant with systemic IFN therapy. How would you see the risk/benefit in this situation? Any antivirals? Cidofovir?

>> 

>> So far no life threatening infection, so that we did not consider PBSCT at this time in a patient with unknown PID. What would be your criteria?

>> I thank you for you help

>> 

>> With best regards

>> 

>>  

>> 

>> Klaus

>> 

>> Prof. Dr. med. Klaus Warnatz

>> 

>> UNIVERSITÄTSKLINIKUM FREIBURG

>> University Freiburg-Medical Center

>> Centre of Chronic Immunodeficiency

>> Division of Rheumatology and Clinical Immunology

>> 

>> Tel: +49-761-270-77640 / FAX -71000 / Pager: 12-7100

>> 

>> Breisacher Str. 117, 79106 Freiburg, Germany

>> klaus.warnatz at uniklinik-freiburg.de

>> http://www.uniklinik-freiburg.de/cci

>> 

>> 

> 

> -- 

> Prof. Dr. Klaus Warnatz

> 

> UNIVERSITÄTSKLINIKUM FREIBURG

> University Freiburg-Medical Center

> Centrum für Chronische Immundefizienz (CCI)

> Abteilung für Rheumatologie und Klinische Immunologie

> 

> 

> Tel +49-761-270-77640 / Fax -71000 / Pager: 12-7100

> 

> Breisacher Str. 117, 79106 Freiburg, Germany

> klaus.warnatz at uniklinik-freiburg.de

> http://www.uniklinik-freiburg.de

> 

> 

> 

> 

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