Leukocyte adhesion deficiency type 1(LAD-1) is a rare autosomal recessive primary immunodeficiency caused by defects in the ITGB2 gene located on chromosome 21q22. Clinically, LAD-1 patients are characterized by recurrent infections, slow wound healing and dystrophic scars after skin injuries, associated with persistent neutrophilia. The severity of symptoms is related to the level of CD11/CD18 expression on patients’ leucocytes and those with less than 1% expression treated with hematopoietic stem cell transplant (HSCT). We present a child affected by LAD-1 who received HSCT from a matched unrelated donor. Molecular analysis revealed apparent homozygosis for a point mutation in the ITGB2 gene, only the mother however was carrier of the mutation. Cytogenetic and FISH analysis showed the presence of a de-novo ring chromosome 21. Whole Genome Analysis with the Affymetrix GeneChip Human Mapping 250K NspI array confirmed in the child the presence of a de novo deletion of the chromosomal region 21q22.3-qter, where the ITGB2 gene maps. While HSCT resulted in successful engraftment and correction of the immunodeficiency, all the phenotypic features of ring (21) syndrome with a deletion of a 4.6Mb (including 69 genes) clearly remained unchanged

ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency

PIOVANI G;MAGRI C;BERTINI V;BARLATI S
2009-01-01

Abstract

Leukocyte adhesion deficiency type 1(LAD-1) is a rare autosomal recessive primary immunodeficiency caused by defects in the ITGB2 gene located on chromosome 21q22. Clinically, LAD-1 patients are characterized by recurrent infections, slow wound healing and dystrophic scars after skin injuries, associated with persistent neutrophilia. The severity of symptoms is related to the level of CD11/CD18 expression on patients’ leucocytes and those with less than 1% expression treated with hematopoietic stem cell transplant (HSCT). We present a child affected by LAD-1 who received HSCT from a matched unrelated donor. Molecular analysis revealed apparent homozygosis for a point mutation in the ITGB2 gene, only the mother however was carrier of the mutation. Cytogenetic and FISH analysis showed the presence of a de-novo ring chromosome 21. Whole Genome Analysis with the Affymetrix GeneChip Human Mapping 250K NspI array confirmed in the child the presence of a de novo deletion of the chromosomal region 21q22.3-qter, where the ITGB2 gene maps. While HSCT resulted in successful engraftment and correction of the immunodeficiency, all the phenotypic features of ring (21) syndrome with a deletion of a 4.6Mb (including 69 genes) clearly remained unchanged
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11379/30075
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