The Journal of Allergy and Clinical Immunology
Volume 124, Issue 6 , Pages 1356-1358 , December 2009

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

  • Maurilia Fiorini, PhD

      Affiliations

    • “Angelo Nocivelli” Institute for Molecular Medicine, University of Brescia, Italy
    • These authors contributed equally to this work.
    • ,
  • Giovanna Piovani, PhD

      Affiliations

    • Biology and Genetics, Department Biomedical Sciences and Biotechnology, University of Brescia, Italy
    • These authors contributed equally to this work.
    • ,
  • Richard F. Schumacher, MD

      Affiliations

    • Divisione di Emato-Oncologia Pediatrica, University of Brescia, Italy
    • ,
  • Chiara Magri, PhD

      Affiliations

    • Biology and Genetics, Department Biomedical Sciences and Biotechnology, University of Brescia, Italy
    • ,
  • Valeria Bertini

      Affiliations

    • Biology and Genetics, Department Biomedical Sciences and Biotechnology, University of Brescia, Italy
    • ,
  • Evelina Mazzolari, MD

      Affiliations

    • Divisione di Emato-Oncologia Pediatrica, University of Brescia, Italy
    • ,
  • Lucia Notarangelo, MD

      Affiliations

    • Divisione di Emato-Oncologia Pediatrica, University of Brescia, Italy
    • ,
  • Luigi D. Notarangelo, MD

      Affiliations

    • Clinica Pediatrica, Ospedale dei Bambini, Spedali Civili, University of Brescia, Italy
    • Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, Mass
    • ,
  • Sergio Barlati, PhD

      Affiliations

    • Biology and Genetics, Department Biomedical Sciences and Biotechnology, University of Brescia, Italy

  • Image Result

    Chromatograms of portion of ITGB2 gene sequence in the proband and his parents. The c.79A > T mutation is marked by an arrow. Note that for the mutated position, the father, the mother, and the affect

    Chromatograms of portion of ITGB2 gene sequence in the proband and his parents. The c.79A > T mutation is marked by an arrow. Note that for the mutated position, the father, the mother, and the affected son showed the AA, AT, and TT genotypes, respectively.

  • Image Result
    Cytogenetic and single nucleotide polymorphism array analyses. A, Patient's Q-banding (arrow). B, FISH painting of chromosome 21 shows signal on 2 chromosomes, including the ring chromosome (arrow). C

    Cytogenetic and single nucleotide polymorphism array analyses. A, Patient's Q-banding (arrow). B, FISH painting of chromosome 21 shows signal on 2 chromosomes, including the ring chromosome (arrow). C, FISH using BAC clone RP11-15F6 reveals lack of signal on 1 of the 2 chromosomes 21 (arrow). D, Copy number state of chromosome 21 probes inferred by CNAG and reported as logarithm to the base 2 of the intensity ratio between proband and controls set. The arrow points to the deleted region.

 Supported by Centro di Studio e ricerca sulle malattie Ereditarie and MIUR (to S.B.) and the Manton Foundation (to L.N.).

 Disclosure of potential conflict of interest: L. Notarangelo has received research support from the National Institutes of Health and the Manton Foundation. The rest of the authors have declared that they have no conflict of interest.

PII: S0091-6749(09)01252-4

doi: 10.1016/j.jaci.2009.07.058

The Journal of Allergy and Clinical Immunology
Volume 124, Issue 6 , Pages 1356-1358 , December 2009

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