[CIS PIDD] [cis-pidd] VS: 22q11 del and NLRP3 mutation

[Seppänen Mikko]

Dear Pere,

genetically I would, after 1+ year of WES a.o. in AIS patients, completely agree with Anna.

Mikko

__________________________________________________
dos Mikko Seppänen
Immuunipuutosv-o

Mikko Seppänen, MD, PhD, Docent (Associate professor/Senior Lecturer)
Specialist in Internal Medicine and Infectious Diseases
Immunodeficiency Unit
Division of Infectious Diseases
Department of Medicine
Helsinki University Central Hospital
Hospital District of Helsinki and Uusimaa
Aurora Hospital, Ward 4-2 and Outpatient Clinic
P.O.Box 348
FI-00029 HUS, Helsinki
FINLAND
phone +358 9 47175923, fax +358 9 47175945
_________________________________________




Lähettäjä: Anna.Simon at radboudumc.nl [mailto:Anna.Simon at radboudumc.nl]
Lähetetty: 23. heinäkuuta 2014 10:28
Vastaanottaja: CIS-PIDD
Aihe: RE:[cis-pidd] 22q11 del and NLRP3 mutation

Dear Pere,

I would be careful in attributing the inflammation to the NLRP3 mutation; we have seen numerous variants in NLRP3 with no detectable functional effects – has resulted in some misdiagnoses (have been guilty of it myself, and missed another diagnosis because of it). Even in exon 3. The fact that the father is asymptomatic with the mutation is very important in this case.

Your question about the risk of Anakinra: we’ve used it in some PID patients. For example, in some patients with CGD it helps for the inflammation. In general it is pretty safe, and the good thing is that it has a short half-life, so the effect is short-lived if you want to stop it. And it works very fast in cases of systemic inflammation: you will know within a few days whether it helps or not.

It is not completely innocent: a patient we saw with self-limiting episodes of fever, inflammation and skin rash for 8 years who had a previously undescribed NLRP3 mutation – we tried anakinra, and first seemed to have a positive effect – then he got worse with more systemic symptoms; luckily quickly recovered after stopping anakinra – finally turned out to be a recurrent erysipelas-like infection.

Best regards,
Anna




A. Simon, MD PhD
Internist, Infectious disease specialist
Associate Professor
Department of Internal Medicine
anna.simon at radboudumc.nl
T +31 (0)24 361 88 19

Radboud university medical center
P.O.Box 9101, 6500 HB Nijmegen (463), The Netherlands
Geert Grooteplein 8 (route 463)
www.radboudumc.nl<http://www.radboudumc.nl>
www.ncia.nl




Van: Pere Soler Palacin [mailto:psoler at vhebron.net]
Verzonden: woensdag 23 juli 2014 0:21
Aan: CIS-PIDD
Onderwerp: [cis-pidd] 22q11 del and NLRP3 mutation


Dear all,

We would like to hear your inputs concerning a 21 month-old 22q11-del female (moderate T-cell lymphopenia, normal proliferative response and normal immunoglobulin levels) with two episodes - separated 12 months from each other - of persistent fever, urticarial rash and arthralgia maintained for more than one month with increased acute phase reactants. All autoantibodies have been repeatedly negative and the patient responded to oral steroids in the first episode but not in the second one.

Autoinflammatory molecular studies showed a heterozygous mutation exon 3 of the gene NLRP not previously described in the literature or available databases and with unknown pathogenic effect. The study in the asymptomatic father revealed the same mutation.

Since the patient remains symptomatic, the possibility of treatment with IL-1 inhibitors arises.



Questions:

- Any experience in 22q11 patients with autoinflammatory disorders?

- Have you used Anakinra in patients with 22q11 or other PID? Does it pose a significant risk of infection due to the patient’s own immunodeficiency state?

- Would you consider adding antibiotic prophylaxis?



Best regards from BCN.

Pere Soler Palacín, MD, PhD.
Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.
Assistant Professor. Universitat Autònoma de Barcelona.
Passeig de la Vall d'Hebron 119-129.
08035 Barcelona. Spain.
Tel: 0034934893140. Fax: 0034934893039.
E-mail: psoler at vhebron.net<mailto:psoler at vhebron.net>; 34660psp at comb.cat<mailto:34660psp at comb.cat>. Web: www.upiip.com<http://www.upiip.com/>.



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