The difference observed in HBoV prevalence between children with RTD and controls provides support for a role of this virus in RTD. The frequent associations of HBoV with other respiratory viruses might be explained by the persistence of HBoV in the respiratory tract. The significance of HBoV viral load in nasopharyngeal secretions as a marker of pathogenicity merits further investigation.

hMPV is a frequent cause of RTD in young children. hMPV/RSV coinfection is frequent and could be more severe than a single hMPV or RSV infection.

Children with IPD should undergo immunological investigations, particularly those aged >2 years, as PIDs may be discovered in up to 26% of cases.

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BackgroundTNF receptor‐associated syndrome (TRAPS) is a dominantly inherited autoinflammatory condition caused by mutations in the TNFRSF1A gene. The mechanism underlying the variable expressivity of the common variant R92Q (rs4149584; c.362G>A; p.Arg121Gln) is unclear and is of critical importance for patient care and genetic counseling. This study evaluated the impact of the number of R92Q mutations in two unique unrelated families.MethodsTwo patients with undefined but clear autoinflammatory symptoms were referred for genetic diagnosis. Blood samples were collected from the available family members to screen autoinflammatory genes and assess key steps of the TNFR1‐mediated signaling pathway using flow cytometry and ex vivo culture.ResultsR92Q homozygosity was demonstrated for the two probands. In family 1, the segregation analysis revealed TRAPS‐like symptoms in all carriers, with a more severe presentation in the proband, whereas in family 2, the heterozygous parents were totally asymptomatic, suggesting recessive transmission. Functional studies revealed a nonclassical pathogenesis of TRAPS in the two probands and suggested a compensatory mechanism without clear dose effect.ConclusionWe observed for the first time a possible clinical dose effect of R92Q. This work highlights the importance of familial studies to reconcile the contradictory reports published on the pathogenicity of this variant.