type I

type I
a disorder caused by mutations in the ITGB2 gene (locus: 21q22.3), which encodes theβ subunit of β2 integrins, leading to reduced or absent β2 integrin expression and to integrin dysfunction. It is characterized by delayed umbilical cord separation, recurrent bacterial infections, impaired pus formation, poor wound healing, gingivitis, leukocytosis, and impairment of adhesion-dependent leukocyte functions. There are two phenotypes: moderate, resulting from dysfunction or partial expression, and severe, resulting from absence or near-absence of expression.

Medical dictionary. 2011.

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