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Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene.

Abstract

OBJECTIVE

To analyze the long-term impact of the R92Q mutation of TNFRSF1A in children with periodic fever, in comparison with children with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with TNFRSF1A structural mutations and children with periodic fever of unknown origin fulfilling the criteria for periodic fever, aphthosis, pharyngitis, and adenitis syndrome (PFAPA).

METHODS

The extracellular region of TNFRSF1A was analyzed in 720 consecutive children with periodic fever, using denaturing high-performance liquid chromatography and DNA sequencing. Followup data on 11 pediatric patients with TNFRSF1A structural mutations (cysteine or T50M), 23 pediatric patients with an R92Q substitution, and 64 pediatric patients with PFAPA were collected during routine clinic visits. The 50-item Child Health Questionnaire was used to assess health-related quality of life (HRQOL).

RESULTS

The frequency of typical TRAPS-related clinical manifestations was significantly lower and the impact of the disease on HRQOL was significantly reduced in patients with the R92Q mutation compared with TRAPS patients carrying structural mutations of TNFRSF1A. Followup data on 11 TRAPS patients with TNFRSF1A structural mutations (mean followup 7.9 years), 16 patients with theR92Q substitution (mean followup 7.3 years), and 64 patients with PFAPA (mean followup 5.2 years) were available. Patients with R92Q mutations and patients with PFAPA displayed a higher rate of self-resolution or amelioration of the fever episodes than did TRAPS patients with structural mutations.

CONCLUSION

Although some cases may progress to a more chronic disease course, the majority of children with an R92Q mutation of the TNFRSFA1 gene show a milder disease course than that in children with TNFRSFA1 structural mutations and have a high rate of spontaneous resolution and amelioration of the recurrent fever episodes.

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  • Authors+Show Affiliations

    ,

    Istituto G. Gaslini, Genoa, Italy.

    , , , , , , , , , , , , ,

    Source

    Arthritis and rheumatism 63:4 2011 Apr pg 1141-50

    MeSH

    Adolescent
    Antirheumatic Agents
    Biological Therapy
    Child
    Child, Preschool
    Familial Mediterranean Fever
    Female
    Fever
    Follow-Up Studies
    Genotype
    Health Surveys
    Humans
    Infant
    Interleukin 1 Receptor Antagonist Protein
    Longitudinal Studies
    Lymphadenitis
    Male
    Mutation
    Pharyngitis
    Quality of Life
    Receptors, Tumor Necrosis Factor
    Receptors, Tumor Necrosis Factor, Type I
    Recurrence
    Retrospective Studies
    Steroids
    Syndrome

    Pub Type(s)

    Comparative Study
    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    21225694

    Citation

    Pelagatti, M A., et al. "Long-term Clinical Profile of Children With the Low-penetrance R92Q Mutation of the TNFRSF1A Gene." Arthritis and Rheumatism, vol. 63, no. 4, 2011, pp. 1141-50.
    Pelagatti MA, Meini A, Caorsi R, et al. Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis Rheum. 2011;63(4):1141-50.
    Pelagatti, M. A., Meini, A., Caorsi, R., Cattalini, M., Federici, S., Zulian, F., ... Gattorno, M. (2011). Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis and Rheumatism, 63(4), pp. 1141-50. doi:10.1002/art.30237.
    Pelagatti MA, et al. Long-term Clinical Profile of Children With the Low-penetrance R92Q Mutation of the TNFRSF1A Gene. Arthritis Rheum. 2011;63(4):1141-50. PubMed PMID: 21225694.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. AU - Pelagatti,M A, AU - Meini,A, AU - Caorsi,R, AU - Cattalini,M, AU - Federici,S, AU - Zulian,F, AU - Calcagno,G, AU - Tommasini,A, AU - Bossi,G, AU - Sormani,M P, AU - Caroli,F, AU - Plebani,A, AU - Ceccherini,I, AU - Martini,A, AU - Gattorno,M, PY - 2011/1/13/entrez PY - 2011/1/13/pubmed PY - 2011/5/24/medline SP - 1141 EP - 50 JF - Arthritis and rheumatism JO - Arthritis Rheum. VL - 63 IS - 4 N2 - OBJECTIVE: To analyze the long-term impact of the R92Q mutation of TNFRSF1A in children with periodic fever, in comparison with children with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with TNFRSF1A structural mutations and children with periodic fever of unknown origin fulfilling the criteria for periodic fever, aphthosis, pharyngitis, and adenitis syndrome (PFAPA). METHODS: The extracellular region of TNFRSF1A was analyzed in 720 consecutive children with periodic fever, using denaturing high-performance liquid chromatography and DNA sequencing. Followup data on 11 pediatric patients with TNFRSF1A structural mutations (cysteine or T50M), 23 pediatric patients with an R92Q substitution, and 64 pediatric patients with PFAPA were collected during routine clinic visits. The 50-item Child Health Questionnaire was used to assess health-related quality of life (HRQOL). RESULTS: The frequency of typical TRAPS-related clinical manifestations was significantly lower and the impact of the disease on HRQOL was significantly reduced in patients with the R92Q mutation compared with TRAPS patients carrying structural mutations of TNFRSF1A. Followup data on 11 TRAPS patients with TNFRSF1A structural mutations (mean followup 7.9 years), 16 patients with theR92Q substitution (mean followup 7.3 years), and 64 patients with PFAPA (mean followup 5.2 years) were available. Patients with R92Q mutations and patients with PFAPA displayed a higher rate of self-resolution or amelioration of the fever episodes than did TRAPS patients with structural mutations. CONCLUSION: Although some cases may progress to a more chronic disease course, the majority of children with an R92Q mutation of the TNFRSFA1 gene show a milder disease course than that in children with TNFRSFA1 structural mutations and have a high rate of spontaneous resolution and amelioration of the recurrent fever episodes. SN - 1529-0131 UR - https://www.unboundmedicine.com/medline/citation/21225694/Long_term_clinical_profile_of_children_with_the_low_penetrance_R92Q_mutation_of_the_TNFRSF1A_gene_ L2 - https://dx.doi.org/10.1002/art.30237 DB - PRIME DP - Unbound Medicine ER -