[CIS PIDD] [cis-pidd] periodic fever patient

[CIS-PIDD]

Here is a description of the mutation:


D. Verma, E. Särndahl, H. Andersson et al., "The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1? and IL-18 production," PLoS ONE, vol. 7, no. 4, Article ID e34977, 2012.?



Beste Grüsse
Prof. Dr. Stephan Ehl
Medizinischer Direktor

UNIVERSITÄTSKLINIKUM FREIBURG
CCI - Center for Chronic Immunodeficiency

Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany
phone: +49(0)761.270-77300
Sekretariat +49(0)761.270-77550  fax +49(0)761.270-77600
e-mail: stephan.ehl at uniklinik-freiburg.de<mailto:stephan.ehl at uniklinik-freiburg.de>
________________________________
Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Gesendet: Montag, 21. Dezember 2015 22:32
An: CIS-PIDD
Betreff: Re: [cis-pidd] periodic fever patient

This patient have been submitted to wes??

Dr Leonardo Mendonca
Médico preceptor imunologia clínica e alergia HCFMUSP
Envido de meu iPhone

On Dec 21, 2015, at 18:23, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Hi all,

I just began seeing a 3yo Caucasian male with periodic fevers occurring since 6 months of age. Fevers originally occurred once every 3-4 weeks associated only with lethargy. He did have rash and conjunctivitis with 1 fever several months ago but these other symptoms never occurred again. No lymphadenitis, sore throat, arthritis, vision trouble, or anything else. He was treated with oral prednisone for presumed PFAPA which did abort the fevers after the first or second dose. The prednisone still works but the synchronicity of fevers has been thrown off, now occurring weekly to monthly and 1 interval of 6 weeks. Without prednisone, fevers reach 103-104F and last ~3days. He is growing well, has no family history or consanguinaity, and has normal baseline labs (CBC, CMP, urinalysis). CRP was elevated during 1 febrile episode in which labs were drawn (WBC elevated also, but otherwise normal). Neonatal period was uneventful. Over the last several months, he has developed chronic abdominal pain that is worse during febrile episodes but can occur independent of fever as well. He had an ultrasound of the abdomen that was normal but no other imaging. He was referred to our group after a periodic fever panel was performed and he was found to have a heterozygous mutation in exon 5 of NLRP3 c.2113C>A p.Gln705Lys that is predicted to be damaging.

I have looked in the literature and am having a hard time finding this mutation as previously described and since his manifestations are not really consistent with CAPS, I question what this mutation means. Does anyone have any insight as to whether this mutation is truly disease causing or has anyone seen this mutation in a patient with CAPS before?

Thanks,
Jen Leiding

Jennifer Leiding, MD
Assistant Professor
University of South Florida
Department of Pediatrics
Division of Allergy, Immunology, and Rheumatology
Children's Research Institute
140 - 7th Avenue South Box 9680
St. Petersburg, Florida 33701
Phone: 727.553.1304
Fax: 727.553.1295


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