[CIS PIDD] [cis-pidd] Partial Jacobsen syndrome with HPV-related AINIII and squamous carcinoma- advice on HPV treatment

[CIS-PIDD]

Given the severity of the HPV disease, consider an NK cell deficiency or dysfunction.

See  J Clin Immunol. 2015; 35(8): 761-768. <http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659842/>

Joe Church
Children's Hospital Los Angeles

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Wednesday, March 16, 2016 5:54 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] Partial Jacobsen syndrome with HPV-related AINIII and squamous carcinoma- advice on HPV treatment

We really like topical cidofovir for recalcitrant warts.

Kate Sullivan
Sent from my iPhone

On Mar 16, 2016, at 8:22 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Subject: Partial Jacobsen syndrome

Dear All,
I would appreciate any treatment suggestions.
I  have a 29 yr old female  patient with karyotype confirmed distal chromosomal deletion of no 11. She recently presented   to our service with  severe anal  and genitial warts, with malignant transformation into carcinoma.

She also has eczema like skin lesions.
She has facial appearances that look like Jacobsen syndrome, but with  hirsutism.
Previous condylomata  treatment includes iquinimod has failed. She has had guardasil vaccinations
Would there be any advice you could offer as to how to manage her condylomata?

Here is her problem list and summary of results.

1.         Recurrent severe genitourinary and rectal HPV infection
-        Recurrent vaginal and anal condylomata onset age 25 with secondary VIN,  CINIII,  AINIII with focal invasive squamous cell carcinoma ( and previously resected carcinoma )
-
2.         Ch 11 deletion
-        Delayed early motor development Possibly delayed primary teeth loss ( age 9 one had to be removed by dentist )
-        Early menarche aged seven,
-        Acromegalic, hirsute, greasy skin.   Testosterone,  IGF-1 normal
-        No Family History of PID
3.         Rash with  secondary Staph aureus infection Biopsy reported as chronic spongiotic dermatitis ( this is more eczema like than psoriatic) Now resolved.

Current Medication
Depoprovera

Further Negative or Normal Investigations
Platelets normal morphology
WCC normal  and lymphocyte subsets all normal
HIV test negative on two occasions, syphilis serology normal
Immunoglobulins IgG 6.7 (normal pre-op and for many years)
IGF-1 normal
Prolactin normal
TFT normal
HbA1c normal
Testosterone normal


Many thanks in advance for your advice

Dr Karen Lindsay
Rheumatologist and Immunology Fellow
MBChB BSc MRCP (UK)
Immunology dept
Auckland City Hospital



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