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

[Pere Soler Palacin]

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 ; 34660psp at comb.cat . Web: www.upiip.com . 



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