TY - JOUR
T1 - Isolated congenital asplenia
T2 - A French nationwide retrospective survey of 20 cases
AU - Mahlaoui, Nizar
AU - Minard-Colin, Veronique
AU - Picard, Capucine
AU - Bolze, Alexandre
AU - Ku, Cheng Lung
AU - Tournilhac, Olivier
AU - Gilbert-Dussardier, Brigitte
AU - Pautard, Brigitte
AU - Durand, Philippe
AU - Devictor, Denis
AU - Lachassinne, Eric
AU - Guillois, Bernard
AU - Morin, Michel
AU - Gouraud, Franois
AU - Valensi, Franoise
AU - Fischer, Alain
AU - Puel, Anne
AU - Abel, Laurent
AU - Bonnet, Damien
AU - Casanova, Jean Laurent
N1 - Funding Information:
Supported by INSERM, University Paris Descartes, Rockefeller University, Howard Hughes Medical Institute, Dana Foundation, March of Dimes, the EU, and ANR (Agence nationale de la recherche). The authors declare no conflicts of interest.
PY - 2011/1/1
Y1 - 2011/1/1
N2 - 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. Study design: 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.
AB - 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. Study design: 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.
UR - http://www.scopus.com/inward/record.url?scp=78650006967&partnerID=8YFLogxK
U2 - 10.1016/j.jpeds.2010.07.027
DO - 10.1016/j.jpeds.2010.07.027
M3 - Article
AN - SCOPUS:78650006967
SN - 0022-3476
VL - 158
SP - 142-148.e1
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 1
ER -