title: Pneumococcal vaccine failure: can it be a primary immunodeficiency?
abstract: Vaccine failure is a rare condition and the need to investigate a primary immunodeficiency is controversial. We present the case of a 4-year-old boy, with complete antipneumococcal vaccination, who had necrotising pneumonia with pleural effusion and severe pancytopaenia with need for transfusion. A vaccine-serotype Streptococcus pneumoniae was isolated in the blood culture. On follow-up, detailed medical history, laboratory and genetic investigation led to the diagnosis of X linked dyskeratosis congenita. Dyskeratosis congenita is an inherited disorder that causes shortening or dysfunction of telomeres, affecting mainly rapidly dividing cells (particularly in the skin and haematopoietic system). It leads to bone marrow failure, combined immunodeficiency and predisposition to cancer. The confirmation of this diagnosis allows genetic counselling and medical monitoring of these patients, in order to detect early complications such as bone marrow aplasia or malignancies.
authors.affiliation: Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de coimbra, Coimbra, Portugal.
authors.forename: Rita
authors.initials: R
authors.lastname: Moinho
authors.affiliation: Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de coimbra, Coimbra, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Brett
authors.affiliation: Department of Serviço de Hematologia, Centro Hospitalar e Universitário de coimbra, Coimbra, Portugal.
authors.forename: Gisela
authors.initials: G
authors.lastname: Ferreira
authors.affiliation: Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de coimbra, Coimbra, Portugal.
authors.forename: Sónia
authors.initials: S
authors.lastname: Lemos
mesh_terms: D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000175:diagnosis* / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000276:immunology; D008297:Male; D010996:Pleural Effusion / Q000000981:diagnostic imaging; D022242:Pneumococcal Vaccines / Q000627:therapeutic use*; D011018:Pneumonia, Pneumococcal / Q000000981:diagnostic imaging / Q000517:prevention & control*; D011859:Radiography; D013296:Streptococcus pneumoniae / Q000302:isolation & purification*; D017211:Treatment Failure
chemical_list: D022242:Pneumococcal Vaccines