PMID: 11920839Mar 29, 2002Paper

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter

American Journal of Medical Genetics
Katrin OunapPiret Laidre

Abstract

We describe here a 3-year-old girl demonstrating combined cellular immunodeficiency of B- and T-cells, pancytopenia, multiple anomalies, and severe mental retardation. Cytogenetic analysis and fluorescent in situ hybridization (FISH) indicated an unbalanced translocation of chromosomes 8q and 11q, resulting in monosomy 11q23.3-qter and trisomy 8q24.3-qter. The association of cellular immunodeficiency and partial deletion 11q and/or partial trisomy 8q has not been described previously; however, the 11q deletion has been reported with humoral immunodeficiency or pancytopenia. Some one-third to one-half of patients with partial monosomy 11q were reported to have pancytopenia, which has been related to the absence of the 11q23-q24 region. Our case narrows down the critical interval for thrombo- or pancytopenia to 11q23.3-q24 and excludes both the ATM (which resides on 11q23.1) and the MLL genes as possible candidate genes. We are proposing that haploinsufficiency of the NFRKB gene on 11q24-q25 and/or the ETS-1 proto-oncogene on 11q24 may have caused or contributed to the immunodeficiency (decreased levels of B- and T-lymphocytes) in our patient.

References

Jan 1, 1990·American Journal of Medical Genetics·T D WardinskyH C Thuline
Nov 6, 1995·American Journal of Medical Genetics·A F LewandaE W Jabs
Dec 30, 1996·American Journal of Medical Genetics·J E MingJ M Graham
Jan 14, 1999·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·N SirventR Mariani

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Citations

Jun 17, 2016·Revista da Associação Médica Brasileira·Wellcy Gonçalves TeixeiraMaíra Cristina Menezes Freire
Jul 22, 2004·American Journal of Medical Genetics. Part a·Paul D GrossfeldChristopher Jones

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