[CIS PIDD] [cis-pidd] AR-CGD and Hidradenitis

[CIS-PIDD]

Hi,

What do you think of ustekinumab?

There is some experiences in the literature for HS (
http://www.ncbi.nlm.nih.gov/pubmed/21605174) and it is generally considered
(at least in psoriasis) safer then anti-TNF.

Interestingly a case of CGD-colitis succesfully treated with ustekinumab
was recently reported (
http://link.springer.com/article/10.1007%2Fs10875-016-0318-x ).

It also (kind of) reminds me the case presented by Steven Hollande in his
lecture at CIS Boston 2016 of the use of ustekinumab in LAD (
https://cis.confex.com/cis/2016/videogateway.cgi/id/593?recordingid=593 ).

Kind regards,

Boaz Palterer, MD
Resident in Allergology and Clinical Immunology
University of Florence, Italy
email boaz.palterer at gmail.com


On Thu, Aug 18, 2016 at 3:43 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Thanks, Mikko.  There is no family history of HS.  I very much appreciate
> the references.  JC
>
>
>
> *From:* CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
> *Sent:* Wednesday, August 17, 2016 9:52 PM
> *To:* CIS-PIDD
> *Subject:* Re: [cis-pidd] AR-CGD and Hidradenitis
>
>
>
> Joe,
>
>
>
> Tricky to treat then!!
>
>
>
> More of a theoretic thought than anything practical: of course her HS
> disease may "solely" be caused by CGD, but being lean and non-smoking, does
> she have any family history of HS?
>
>
>
> Some monogenic HS cases are caused by LOF gamma-secretase complex gene
> mutations possibly affecting Notch-signaling (Dermatol Clin. 2016
> Jan;34(1):23-8. doi: 10.1016/j.det.2015.07.002). There are other suspected
> loci, CNVs and unknown genes as well. g-secretase mut carriers tend to have
> early, prepubertal onset.
>
>
>
> Lesionally and perilesionally, there are increased Th17 and
> gamma-interferon secreting CD4 cells a.o.t. Follicles secrete increased
> amounts of IL-1b a.o.t. (
> PMID
>
>  27206704), so maybe there will be more trials of biologicals and topical
> targeted immunomodulation in the future?
>
>
>
> Not that this helps now...
>
>
>
> Mikko
>
>
>
> Oyl Mikko Seppänen
>
> Harvinaissairauksien yksikkö (HAKE)
>
>
>
> Head, Rare Disease Center,
>
> Helsinki University Hospital (HUH)
>
> FINLAND
>
>
>
> phone +358 947180201
>
> GSM +358 50 4279606
>
> fax +358 9 47174703
>
>
> CIS-PIDD <cis-pidd at lists.clinimmsoc.org> kirjoitti 18.8.2016 kello 2.35:
>
> Colleagues:
>
> Thank you all for the great suggestions.
>
> Thalidomide is a good idea.  The problem is that this young lady refused
> Accutane (isotretinoin) because she would have to take birth control pills
> and have regular lab monitoring done.  However, I will mention this to the
> primary MD.
>
> As noted, anti-TNF treatments have been associated with serious
> complications in CGD patients.
>
> I discussed with her the potential for transplant to cure her disease.
> She is not interested.  She notes that she has not had a single serious
> infection since her diagnosis and starting prophylaxis, and is unwilling to
> run the risk.  She may have a mutation that allows some oxidase
> expression.  I am waiting for results of our in-house DHR.
>
> Injectable or low-dose systemic steroids would address the
> hyperinflammatory state in CGD.  Either may be the safest place to start.
>
> She does not smoke; she is Asian-American; and lean.  So, except for CGD
> she has none of the predisposing factors for hidradenitis..
>
> Again, thank you for your assistance.
>
> Joe Church
> Children's Hospital Los Angeles
>
>
>
>
>
>
>
>
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