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

[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

>

>

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