Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.
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.
Mahlaoui
Nizar
N
Pediatric Immunology-Hematology Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, University Paris Descartes, Paris, France. nizar.mahlaoui@nck.aphp.fr
Minard-Colin
Veronique
V
Picard
Capucine
C
Bolze
Alexandre
A
Ku
Cheng-Lung
CL
Tournilhac
Olivier
O
Gilbert-Dussardier
Brigitte
B
Pautard
Brigitte
B
Durand
Philippe
P
Devictor
Denis
D
Lachassinne
Eric
E
Guillois
Bernard
B
Morin
Michel
M
Gouraud
François
F
Valensi
Françoise
F
Fischer
Alain
A
Puel
Anne
A
Abel
Laurent
L
Bonnet
Damien
D
Casanova
Jean-Laurent
JL
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