title: Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.
abstract: OBJECTIVE
  To better describe the natural history, mode of inheritance, and the epidemiological and clinical features of isolated congenital asplenia, a rare and poorly understood primary immunodeficiency.
  
  
  METHODS
  A French national retrospective survey was conducted in hospital pediatric departments. A definitive diagnosis of ICA was based on the presence of Howell-Jolly bodies, a lack of detectable spleen, and no detectable cardiovascular malformation.
  
  
  RESULTS
  The study included 20 patients (12 males and 8 females) from 10 kindreds neither related to each other nor consanguineous. The diagnosis of ICA was certain in 13 cases (65%) and probable in 7 cases (35%). Ten index cases led to diagnosis of 10 additional cases in relatives. Five cases were sporadic and 15 were familial, suggesting autosomal dominant inheritance. Median age was 12 months at first infection (range, 2-516 months), 11 months at diagnosis of asplenia (range, 0-510 months), and 9.9 years at last follow-up (range, 0.7-52 years). Fifteen patients sustained 18 episodes of invasive bacterial infection, caused mainly by Streptococcus pneumoniae (61%). Outcomes were poor, with 9 patients (45%) dying from fulminant infection.
  
  
  CONCLUSIONS
  ICA is more common than was previously thought, with an autosomal dominant inheritance in at least some kindreds. Relatives of cases of ICA should be evaluated for ICA, as should children and young adults with invasive infection.
authors.affiliation: Pediatric Immunology-Hematology Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, University Paris Descartes, Paris, France. nizar.mahlaoui@nck.aphp.fr
authors.forename: Nizar
authors.initials: N
authors.lastname: Mahlaoui
authors.forename: Veronique
authors.initials: V
authors.lastname: Minard-Colin
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Alexandre
authors.initials: A
authors.lastname: Bolze
authors.forename: Cheng-Lung
authors.initials: CL
authors.lastname: Ku
authors.forename: Olivier
authors.initials: O
authors.lastname: Tournilhac
authors.forename: Brigitte
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: Brigitte
authors.initials: B
authors.lastname: Pautard
authors.forename: Philippe
authors.initials: P
authors.lastname: Durand
authors.forename: Denis
authors.initials: D
authors.lastname: Devictor
authors.forename: Eric
authors.initials: E
authors.lastname: Lachassinne
authors.forename: Bernard
authors.initials: B
authors.lastname: Guillois
authors.forename: Michel
authors.initials: M
authors.lastname: Morin
authors.forename: François
authors.initials: F
authors.lastname: Gouraud
authors.forename: Françoise
authors.initials: F
authors.lastname: Valensi
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Anne
authors.initials: A
authors.lastname: Puel
authors.forename: Laurent
authors.initials: L
authors.lastname: Abel
authors.forename: Damien
authors.initials: D
authors.lastname: Bonnet
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012189:Retrospective Studies; D013154:Spleen / Q000002:abnormalities*; D055815:Young Adult