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

[CIS-PIDD]

Hi Karen

we have a similar patient and a similar problem. Published: J Clin Immunol.<http://www.ncbi.nlm.nih.gov/pubmed/?term=Seppanen+M+Sullivan+K> 2014 Jan;34(1):114-8.

Together with the additional and confirming excellent data given by Mirjam and colleagues (see Joe’s reply for reference ) and considering this abstract from NIH and Texas/ Steve and Jordan:

https://idsa.confex.com/idsa/2013/webprogram/Paper41144.html

… I have personally wondered if we should attempt alpha-IF treatment on our patient? Maybe we both should?

Has anyone yet tried this in 11qter?

ATB,

Mikko

Mikko Seppänen, MD, PhD, Associate professor
Specialist in Internal Medicine and Infectious Diseases
Head, Rare Disease Center, Helsinki University Hospital (HUH)
Children’s Hospital, P.O.Box 280
FI-00029 HUS
FINLAND
&
Senior Consultant (PIDD)
Adult Immunodeficiency Unit
Inflammation Center, HUH



Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Lähetetty: 17. maaliskuuta 2016 2:22
Vastaanottaja: CIS-PIDD
Aihe: [MARKETING][cis-pidd] Partial Jacobsen syndrome with HPV-related AINIII and squamous carcinoma- advice on HPV treatment


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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