RESUMO
PURPOSE: The importance of carbohydrates in anaphylaxis has been described with some foods. The current work intends to obtain clinical and immunological evidence of the importance of the O-glycans for IgE binding activity in anaphylactic reactions due to Helix aspersa (HA) ingestión and Artemisia vulgaris (AV) exposition. METHODS: The studio focused on two cases of IgE-mediated anaphylaxis induced by snail ingestion in patients with underlying rhino-conjunctivitis and asthma due to AV. We performed on both patients: skin prick tests ( SPTs) with HA and AV and with a battery of aeroallergen, controlled nasal challenge and specific IgE to HA and AV, ImmunoCAP ISAC®, and a differential pattern of IgE recognition with SDS-PAGE Immunoblotting (SDSI) when these allergens have suffered an O-deglycosylation procedure. RESULTS: The patients showed positive results in SPTs, nasal challenges, and serum-specific IgE against HA and AV. In patient 1, the SDSI detected several IgE-binding proteins in AV with a molecular mass of 22, 24, and 44 kDa, whereas a band of 12 kDa was detected in HA. On the other hand, patient 2's serum revealed an IgE-binding zone between 75 and 20 kDa in the AV and a band of 24 kDa in the HA. When glycans were removed, patient 1's serum only revealed the AV's 22 and 24 kDa bands, whereas patient 2's serum did not detect any IgE-reactive protein in the HA. CONCLUSIONS: Our data suggest that O-glycosylation can be relevant in patients with anaphylaxis due to snails and allergy to Artemisia vulgaris. This new entity representing cross-reactivity between AV and HA could be named Snail-Artemisia Syndrome.
Assuntos
Anafilaxia , Artemisia , Rinite Alérgica Sazonal , Humanos , Anafilaxia/diagnóstico , Anafilaxia/etiologia , Carboidratos , Polissacarídeos , Imunoglobulina ERESUMO
OBJECTIVES: To characterise what immunogenetic alterations are present in a Spanish family having several members with a familial cold-induced autoinflammatory syndrome (FCAS), a kind of autoinflammatory disease (AID). METHODS: We present the case of two sisters (cases 1 and 2) with a similar clinical picture since their childhood. The symptoms start after exposure to cold and consist of recurrent fever, papules or urticaria, and oedema in hands and fingers. The mother had similar symptomatology as her daughters, which remitted after her first pregnancy, whereas the father is healthy. Patients and their parents were genotyped in a panel of 14 candidate genes using Next-Generation Sequencing (NGS). Real-time PCR was used to quantify IL1ß mRNA levels from LPS-stimulated monocytes. ELISA was used to measure the IL1ß and IL18 concentrations in supernatants and sCD25 levels in sera. IL1ß, IL4, IL6, IL8, IL10, IL17A, IL18 and TNF-α serum levels were assessed using xMAP® Technology. RESULTS: All the genetic variants found in this family are benign with two exceptions: NLRC4 p.Leu339Pro (present in both cases and their mother) and PSTPIP1 p.Gln219His (present in Case 1 and her father). The monocytes stimulated of the individuals with the NLRC4 variant produce higher levels of IL1ß (protein and mRNA). Levels of TNF-α, IL4, and IL6 were higher in Case 1 than in the age-matched controls. CONCLUSIONS: The familial segregation and the clinical picture compatible with FCAS suggest that NLRC4 p.Leu339Pro causes the AIDs syndrome diagnosed in several family members.