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

[Klaus Warnatz]

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 

> <mailto: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 <tel:%2B49-761-270-77640> / FAX -71000 /

>     Pager: 12-7100

>

>     Breisacher Str. 117, 79106 Freiburg, Germany

>     klaus.warnatz at uniklinik-freiburg.de

>     <mailto: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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