Juvenile-onset recurrent papillomatosis (PRRIJ) in a patient with a NLRP1 mutation, a case report.

Juvenile-onset recurrent papillomatosis (JPRRI) is a childhood disease characterized by the recurrent growth of papillomas in the respiratory tract.
The importance of the inflammasome in the response to acute viruses has been described.
We present the case of a patient with a form of this disease with a mutation in the NLRP1 gene.

Case presentation
A 5-year-old female patient, with antecedent that a condyloma was detected on the mother two months before birth. The patient was born by premature vaginal delivery at 27 weeks, hospitalized in the neonatal intensive care unit, and intubated for ten days. After that, she had normal development.
She began with stridor and dyspnea at four months of age. Bronchoscopy identified extensive laryngeal papillomatosis with extension to the left bronchi and required intubation and tracheostomy. Surgical resection was scheduled. She required five more resections. After that, she was referred to the immunology service due to recurrent papillomatosis. She started with monthly IVIG. WES showed a heterozygous mutation (c.3145G>A) in NLRP1, and colchicine was started. The patient continues with monthly IVIG, and resections have been spaced, with marked clinical improvement in symptoms. The patient also has a CARD 11 heterozygous mutation, however, without symptoms associated with this gene.

JPRRI patients often have inborn errors of immunity. NLRP mutations are associated with inflammasome overactivation, and patients with gain-of-function and papillomatosis have been described in those cases. The exome sequencing study allowed us to identify the heterozygous variant in this patient, which helped to find a more targeted therapy and a better prognosis for the patient.

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