Current and future management of recurrent respiratory papillomatosis

Ivancic, Ryan; Iqbal, Hassan; deSilva, Brad W.; Pan, Quintin; Matrka, Laura

doi:10.1002/lio2.132

Cited by 118 publications

(149 citation statements)

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“…The standard of care remains surgical removal of the papillomas (usually by laser ablation) to keep the airway patent, with patients requiring a median of 4.4 (range 0.2 to 19.3) surgical procedures per year, attesting to the medical burden of this disease (4,11). Spontaneous remission occurs in approximately one-half of children by adulthood (4,12,13).…”

Section: Significancementioning

confidence: 99%

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Drutman

Haerynck

Zhong

et al. 2019

Proc. Natl. Acad. Sci. U.S.A.

103

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Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in most cases, but it is still not understood why only a small proportion of children develop JRRP following exposure to these common viruses. We report 2 siblings with a syndromic form of JRRP associated with mild dermatologic abnormalities. Whole-exome sequencing of the patients revealed a private homozygous mutation in NLRP1, encoding Nucleotide-Binding Domain Leucine-Rich Repeat Family Pyrin Domain-Containing 1. We find the NLRP1 mutant allele to be gain of function (GOF) for inflammasome activation, as demonstrated by the induction of inflammasome complex oligomerization and IL-1β secretion in an overexpression system. Moreover, patient-derived keratinocytes secrete elevated levels of IL-1β at baseline. Finally, both patients displayed elevated levels of inflammasome-induced cytokines in the serum. Six NLRP1 GOF mutations have previously been described to underlie 3 allelic Mendelian diseases with differing phenotypes and modes of inheritance. Our results demonstrate that an autosomal recessive, syndromic form of JRRP can be associated with an NLRP1 GOF mutation.

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Section: Significancementioning

confidence: 99%

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Drutman

Haerynck

Zhong

et al. 2019

Proc. Natl. Acad. Sci. U.S.A.

103

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“…Novel defects of hyperactive immunity leading to viral infection-related morbidity Recurrent respiratory papillomatosis (RRP) is a rare disease resulting in recurrent benign papillomas of the respiratory mucosa in otherwise healthy children and is typically caused by chronic infection with human papilloma virus (HPV) serotypes 6 or 11 83 . Thus far, an immunologic etiology for this disease has remained unknown.…”

Section: Recent Insights Gained From Primary Immunodeficiency Disordementioning

confidence: 99%

Recent advances in understanding inherited deficiencies in immunity to infections

Constantine

Lionakis

2020

F1000Res

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F1000 Faculty Reviews are written by members of the prestigious . They are F1000 Faculty commissioned and are peer reviewed before publication to ensure that the final, published version is comprehensive and accessible. The reviewers who approved the final version are listed with their names and affiliations. AbstractThe immune system is central to our interactions with the world in which we live and importantly dictates our response to potential allergens, toxins, and pathogens to which we are constantly exposed. Understanding the mechanisms that underlie protective host immune responses against microbial pathogens is vital for the development of improved treatment and vaccination strategies against infections. To that end, inherited immunodeficiencies that manifest with susceptibility to bacterial, viral, and/or fungal infections have provided fundamental insights into the indispensable contribution of key immune pathways in host defense against various pathogens. In this mini-review, we summarize the findings from a series of recent publications in which inherited immunodeficiencies have helped illuminate the interplay of human immunity and resistance to infection. PubMed Abstract | Publisher Full Text 2. Korn T, Bettelli E, Oukka M, et al.: IL-17 and Th17 Cells. Annu Rev Immunol. 2009; 27: 485-517. PubMed Abstract | Publisher Full Text 3. Hunter CA, Jones SA: IL-6 as a keystone cytokine in health and disease. Nat Immunol. 2015; 16(5): 448-57. PubMed Abstract | Publisher Full Text 4. Boulanger MJ, Chow D, Brevnova EE, et al.: Hexameric structure and assembly of the interleukin-6/IL-6 alpha-receptor/gp130 complex. Science. 2003; 300(5628): 2101-4.PubMed Abstract | Publisher Full Text | F1000 Recommendation 5.Taga T, Kishimoto T: Gp130 and the interleukin-6 family of cytokines. Annu Rev Immunol. 1997; 15: 797-819.PubMed Abstract | Publisher Full Text 6. O'Shea JJ, Plenge R: JAK and STAT signaling molecules in immunoregulation and immune-mediated disease. Immunity. 2012; 36(4): 542-50. PubMed Abstract | Publisher Full Text | Free Full Text 7. Nguyen MT, Pødenphant J, Ravn P: Three cases of severely disseminated Staphylococcus aureus infection in patients treated with tocilizumab. BMJ Case Rep. 2013; 2013: pii: bcr2012007413. PubMed Abstract | Publisher Full Text | Free Full Text 8. Puel A, Casanova JL: The nature of human IL-6. J Exp Med. 2019; 216(9): 1969-71. Publisher Full Text 9. Bloomfield M, Parackova Z, Cabelova T, et al.: Anti-IL6 Autoantibodies in an Infant With CRP-Less Septic Shock. Front Immunol. 2019; 10: 2629. PubMed Abstract | Publisher Full Text | Free Full Text | F1000 Recommendation 10. Schwerd T, Twigg SRF, Aschenbrenner D, et al.: A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. J Exp Med. 2017; 214(9): 2547-62. PubMed Abstract | Publisher Full Text | Free Full Text | F1000 Recommendation 11. Holland SM, DeLeo FR, Elloumi HZ, et al.: STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007; 357(16): 1608-19. PubMed Abstract | Publ...

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“…The earlier the onset of JoRRP, the more aggressive the disease will be. In the United States the incidence of JoRRP is estimated to be 4.3 per 100,000 children and the infection with HPV 6 and 11 remains the main cause [ 18 , 19 , 20 ]. On the other hand, high risk HPVs, such as type 16, have been also detected in the oral mucosa and buccal swabs of children that are up to 12 years old [ 21 ].…”

Section: Introductionmentioning

confidence: 99%

Detection of Human Papillomaviruses in the Nasopharynx of Breastfed Infants: New Findings and Meta-Analysis

Dassi

Annunziata

Botti

et al. 2020

Viruses

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Vertical transmission of human papillomaviruses (HPVs) from mother to infant is known to occur during labor, delivery or breastfeeding. Infection with mucosal HPV 6 and 11 may cause recurrent respiratory papillomatosis in children, which is a rare and severe respiratory disease. The cutaneous HPV genotypes have also been described to be transmitted from mother to newborn through skin-to-skin contacts and during breastfeeding. To investigate the perinatal transmission of alpha and beta HPVs we collected nasopharyngeal specimens from 0–12-months-old infants born by vaginal delivery and breastfed at the time of sample collection. The mucosal and cutaneous HPVs were searched by nested PCR using the MY09/11-MGPs and CP65/70-CP66/69 primer sets, respectively, and genotypes identified by direct sequencing analysis. Fourteen out of 113 (12.4%) samples tested positive for HPV and sequence analysis allowed us to identify eight beta genotypes (HPV 5b, 20, 25, 100, 107, 124, 152 and RTRX7). Moreover, we performed a comprehensive review of published studies on the prevalence of mucosal and cutaneous HPVs among 5126 newborns and observed that 10% and 53% were positive for alpha and beta HPVs, respectively. In all studies there was an inverse correlation between the rate of alpha HPV positivity and age, while a significant positive trend was observed in beta HPV detection and age with the highest rate among children older than 12 months (Χ2 test for trend of 10.6, p < 0.001). Further studies are needed to confirm the hypothesis that beta HPVs are transmitted to breastfeeding infants through shedding of viruses in the breast milk or on the external breast epithelium.

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Current and future management of recurrent respiratory papillomatosis

Cited by 118 publications

References 118 publications

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Recent advances in understanding inherited deficiencies in immunity to infections

Detection of Human Papillomaviruses in the Nasopharynx of Breastfed Infants: New Findings and Meta-Analysis

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