[CIS PIDD] [cis-pidd] Hyperzincemia and hypercalprotectinemia

[CIS-PIDD]

Dear colleagues, we'd really appreciate your thoughts about the case of an 11 year-old boy with hyperzincemia and hypercalprotectinemia (confirmed mutation in exon 11 of the CD2BP1 gene with genetic variant E250K in heterozygosis and autosomal dominant inheritance ) which presents recurrent severe aseptic monoarthritis in the last year despite several therapeutic regimens (current treatment: tocilizumab, colchicine and steroids. 

Family history: 

Gypsy ethnicity. First-degree consanguinity 
Medical history 
He presents recurrent episodes of fever, anemia, neutropenia and splenomegaly since newborn period with elevated inflammatory parameters (calprotectin, ESR, CRP, amyloid protein). 

He started steroids in 2007 with initial clinical response but the impossibility to withdraw it and colchicine was added in 2013. Thereafter he has also received also treatment with: cyclosporine A, anakinra, canakinumab (no response to Il-1 inhibitors), leflunomide and tocilizumab with partial response. He is low-dose steroid-dependent (with failure to thrive and proteinuria as main AE) and tocilizumab has brought some clinical and analytical improvement with inflammatory parameters returning to normal values except for persistent neutropenia. 

The patient is doing quite well except for recurrent severe aseptic monoarthritis that cannot be controlled with standard therapies. Any thoughts? As fa as we know, HSCT has been performed in 2 patients with discordant results. Any experience with it? May you need more detailed information regarding therapeutic schedules I’ll be glad to send it. 

Best regards fom BCN, 

Pere 

Pere Soler Palacín, MD, PhD, MSc. 
Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'He bron. 
Vall d'Hebron Research Institute (VHIR) 
Assistant Professor. Universitat Autònoma de Barcelona (UAB) 
Director of the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies (Barcelona) 
Pg. de la Vall d'Hebron, 119-129 
08035 Barcelona. Spain. 
Tel. 0034934893140 / Fax 0034934893039 
psoler at vhebron.net / 34660psp at comb.cat 
Web: www.upiip.com 
My ORCID 
ResearchGate: http://www.researchgate.net/profile/Pere_Soler-Palacin 
Linked In : www.linkedin.com/in/ pere-soler-palacin 
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