title: [Hyperimmunoglobulinemia D and periodic fever syndrome].
abstract: We report the cases of two sisters born of parents who were first-degree cousins, who started recurrent fever with lymph node and digestive tract involvement at the age of 2 years. There was no mutation of the familial Mediterranean fever gene and a diagnosis of partial mevalonate kinase (MVK) deficiency was made. However, immunoglobulin (Ig) D and A levels were normal. Elevated mevalonic acid in the patients' urine during an episode and MVK gene analysis provided the diagnosis. Clinical remission was obtained under anti-TNF-alpha treatment with etanercept. These observations and those of several previously reported patients, particularly in French and Dutch series, illustrate the importance of considering the diagnosis in a child with early-onset auto-inflammatory syndrome even in the absence of hyper-IgD or -IgA.
authors.affiliation: Service de pédiatrie, centre hospitalier de Marne-La-Vallée, 2-4, cours de La-Gondoire, 77600 Jossigny, France. Electronic address: kagbokpati@ch-lagny77.fr.
authors.forename: K-P
authors.initials: KP
authors.lastname: Agbo-kpati
authors.affiliation: Service de pédiatrie, centre hospitalier de Marne-La-Vallée, 2-4, cours de La-Gondoire, 77600 Jossigny, France.
authors.forename: R
authors.initials: R
authors.lastname: Condor
authors.affiliation: Service de pédiatrie, centre hospitalier de Marne-La-Vallée, 2-4, cours de La-Gondoire, 77600 Jossigny, France.
authors.forename: H
authors.initials: H
authors.lastname: Hollenberg
authors.affiliation: Service de pédiatrie, centre hospitalier de Marne-La-Vallée, 2-4, cours de La-Gondoire, 77600 Jossigny, France.
authors.forename: A
authors.initials: A
authors.lastname: Chalvon Demersay
authors.affiliation: Laboratoire de génétique moléculaire, CHU Cochin, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Cuisset
authors.affiliation: Unité d'immunologie, d'hématologie et de rhumatologie pédiatriques, centre de référence des arthrites juvéniles idiopathiques, université Paris-Descartes, institut Imagine, CHU Necker-Enfants-Malades, Assistance Publique-Hôpitaux de Paris, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Quartier
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D054078:Mevalonate Kinase Deficiency / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency / Q000235:genetics; D035781:Siblings
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase