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

[Klaus Warnatz]

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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