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

[Klaus Warnatz]

Thanks Kate,

Gata2 have we considered monocytes are present but that does not rule it 
out. Genetic testing pending.
Ever1/2 I don't have much expience with these but does he not have too 
many immunological abnormalities for Ever?
Dock8 is a pain since there is no easy test. There is little otherwise 
for DOCK 8 so we look first for the others.
Your mild Artemis was he / she radiosensitive?

Thanks

Klaus

Prof. Dr. Klaus Warnatz MD
Centre of Chronic Immunodeficiency
Div. of Rheumatology and Clinical Immunology
University Medical Centre Freiburg
Klinik für Tumorbiologie (2.OG)
Breisacher Str. 117
79106 Freiburg
Germany

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



Am 07.02.2012 13:54, schrieb Sullivan, Kathleen:

> Warts make me think of the following (none of which seen really 

> obvious in your patient but perhaps worth considering as an outlier):

>

> EVER1/2

> GATA2

> Mild Artemis or RAG (we just picked up a mild Artemis deficient man at 21)

> DOCK8

>

> Kate

>

> On Feb 6, 2012, at 12:47 PM, Klaus Warnatz wrote:

>

>> 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 

>> <mailto:klaus.warnatz at uniklinik-freiburg.de>

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

>>

>

> Kate Sullivan, MD PhD

> Professor of Pediatrics

> ARC 1216 Immunology CHOP

> 3615 Civic Center Blvd.

> Philadelphia, PA 19104

> (p) 215-590-1697

> (f) 267-426-0363

>

>

-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20120207/27d193fa/attachment-0001.html>