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Archives de pédiatrie
Volume 20, n° 4
pages 412-417 (avril 2013)
Doi : 10.1016/j.arcped.2013.01.007
Received : 10 July 2012 ;  accepted : 19 January 2013
Quand rechercher un déficit immunitaire héréditaire chez l’enfant ?
When should immunologic explorations be carried out in children with suspicion of primary immunodeficiency?

C. Picard a, , b, c
a Centre d’étude des déficits immunitaires (CEDI), pavillon Kirmisson, hôpital Necker-Enfants Malades, AP–HP, 149, rue de Sèvres, 75015 Paris, France 
b Inserm U980, génétique humaine des maladies infectieuses, faculté Necker, 75015 Paris, France 
c Faculté de médecine Necker, université Paris Descartes, Paris Sorbonne Cité, 75015 Paris, France 

Centre d’étude des déficits immunitaires (CEDI), pavillon Kirmisson, hôpital Necker-Enfants Malades, AP–HP, 149, rue de Sèvres, 75015, France.

L’identification d’un déficit immunitaire héréditaire est importante dans le pronostic et la prise en charge des patients atteints de ces maladies génétiques rares. Pour les diagnostiquer, des examens simples sont à réaliser en première intention devant des infections sévères, récurrentes ou inhabituelles. Ces examens de routine sont l’hémogramme, le dosage pondéral des immunoglobulines, les sérologies post-vaccinales ou post-infectieuses. Ils orientent le diagnostic avec l’analyse conjointe des antécédents infectieux et l’examen clinique. Ils permettent ensuite de guider la prescription et la réalisation d’examens de 2e intention en fonction du type de déficit immunitaire héréditaire suspecté.

The full text of this article is available in PDF format.

The identification of primary immunodeficiency is important in the prognosis and treatment of patients with these rare genetic diseases. For their diagnosis, simple screening explorations need to be carried out in case of severe, recurrent, and/or unusual infections. These include the whole blood cell count, plasmatic immunoglobulin levels, and postimmunization and/or post-infectious serologies. These examinations are used to guide the diagnosis with the joint analysis of patient’s medical history, the clinical examination, and screening of biological results. They will then guide the prescription of more specific second-line explorations depending on the type of primary immunodeficiency suspected.

The full text of this article is available in PDF format.

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