Syndrome of periodic fever, pharyngitis, and aphthous stomatitis

Marshall, Gary S.; Edwards, Kathryn M.; Butler, Joseph L.; Lawton, Alexander R.

doi:10.1016/s0022-3476(87)80285-8

Cited by 476 publications

(288 citation statements)

References 26 publications

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“…Moreover, patients carrying the R92Q mutation displayed a milder disease course in terms of 1006 D'OSUALDO ET AL duration of flares, intensity of disease-associated symptoms, and responsiveness to steroid treatment (2,8), so it is unlikely that most of these patients would have been diagnosed as being affected with TRAPS. Indeed, many of them could be affected with PFAPA syndrome, a generally benign and self-limited condition of unknown origin that is relatively frequent during childhood (20,22). In this light, the R92Q mutation can be regarded as a low-penetrance variant with a mild and broad contribution to autoinflammatory human disease, most likely depending on other modifying genes or environmental factors, as evidenced by the characterization of a large and heterogeneous set of patients affected with a wide range of symptoms.…”

Section: Discussionmentioning

confidence: 99%

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

D’Osualdo¹,

Ferlito²,

Prigione³

et al. 2006

Arthritis & Rheumatism

137

116

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Objective. To explore tumor necrosis factor (TNF)-induced apoptosis in neutrophils from patients with TNF receptor-associated periodic syndrome (TRAPS) and to correlate the results with the different kinds of TNFRSF1A mutations.Methods. Two hundred sixty-five patients with clinically suspected inherited autoinflammatory syndrome were screened for mutations of the TNFRSF1A gene. Neutrophils were isolated from heparinized blood by dextran sedimentation and incubated with and without cycloheximide (CHX) and TNF␣. Cell apoptosis was assessed by human annexin V binding, and caspase 8 activation was assessed by flow cytometry.Results. Twenty-one patients were found to carry a variant of the TNFRSF1A gene: 13 patients had an R92Q substitution, and 8 patients presented other missense substitutions, 1 splicing mutation, and 1 in-frame interstitial deletion. Neutrophil stimulation with TNF and CHX was associated with induction of apoptosis in 12 normal controls and in 10 subjects with the R92Q mutation. Conversely, neutrophils from 8 TRAPS patients with mutations of cysteine or threonine residues or interstitial deletion did not show any induction of apoptosis after stimulation. The incidence of the R92Q mutation among patients with recurrent autoinflammatory syndromes was similar to that observed in the normal population. Conclusion. Resistance to TNF-mediated apoptosis is a feature in TRAPS patients who have mutations of cysteine residues or interstitial deletion, and may play a pathogenic role. The R92Q mutation does not appear to be significantly associated with TRAPS.

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Section: Discussionmentioning

confidence: 99%

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

D’Osualdo¹,

Ferlito²,

Prigione³

et al. 2006

Arthritis & Rheumatism

137

116

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“…1 Since then, numerous cases have been reported worldwide, and PFAPA is considered the most common periodic fever syndrome of childhood. 2 -4 To date, no predisposing genetic mutation has been reported in patients with PFAPA.…”

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confidence: 99%

“…The objectives of the present study were as follows: (1) to determine inheritance patterns in familial case subjects of PFAPA; and (2) to compare the prevalence of PFAPA, recurrent pharyngitis, recurrent aphthous stomatitis, recurrent otitis media, and tonsillectomy in families of patients with PFAPA and families of matched healthy control subjects.…”

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confidence: 99%

Family History in Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome

et al. 2016

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OBJECTIVE: The goal of this study was to describe family history and inheritance patterns in patients with periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome. METHODS: We performed a case–control study to compare the family histories of patients with PFAPA recruited from Vanderbilt University Medical Center and matched healthy control subjects from a pediatric primary care practice in Nashville, Tennessee, by using a structured questionnaire. Characteristics of paired case subjects, control subjects, and their family members were compared by using McNemar’s test and Wilcoxon signed-rank tests. RESULTS: Eighty PFAPA index case subjects and 80 control subjects were recruited. Eighteen PFAPA case subjects (23%) had ≥1 family member with PFAPA. Parents of PFAPA index case subjects were more likely to have recurrent pharyngitis (36% vs 16%; P < .001) and recurrent aphthous stomatitis (46% vs 28%; P = .002) compared with parents of control subjects. Siblings of case subjects had a higher prevalence of PFAPA (10% vs 2%; P = .04), recurrent pharyngitis (24% vs 10%; P = .03), and recurrent aphthous stomatitis (27% vs 7%; P = .003) compared with siblings of control subjects. CONCLUSIONS: A portion of PFAPA case subjects seems to be familial, implying an inherited genetic predisposition to the disorder and/or shared environmental exposures. First-degree relatives (parents and siblings) of patients with PFAPA have a higher prevalence of recurrent pharyngitis and aphthous stomatitis than relatives of control subjects, which suggests that these disorders represent reduced penetrance phenotypes of PFAPA. Further characterization of the genetics and inflammatory profiles of these patients and their relatives is warranted.

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“…The PFAPA syndrome was first proposed by Marshall and colleagues in 1987 2 and its clinical features further described in the 1990s and early 2000s, 3-9 culminating in two comprehensive reviews 10,11 and one recently published large case series. 12 These clinical features are summarized in Table 1.…”

Section: In This Issue Of Journal Of Patient-centered Research Andmentioning

confidence: 99%

What Is PFAPA and Why Does it Matter?

Baumgardner¹

2014

Journal of Patient-Centered Research and Reviews

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Syndrome of periodic fever, pharyngitis, and aphthous stomatitis

Cited by 476 publications

References 26 publications

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

Family History in Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome

What Is PFAPA and Why Does it Matter?

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