Leucocyte adhesion deficiency type 1 is seen in which of the chromosome?
Correct Answer: 21
Description: Key Concept: Patients with LAD1 have an inherited molecular defect that causes a deficiency of the β2 integrin subunit, also called CD18, which is encoded by the ITGB2 gene found on chromosome 21.
LAD/MPO
Leukocyte Adhesion Deficiency (LAD) disorders - Autosomal recessive inheritance pattern
LAD type 1 - deficiency of β2-integrin.
LAD type 2 - deficiency of endothelial cell selectin that binds neutrophils.
First manifestation in either type is delayed separation of the umbilical cord.
Severe gingivitis, poor wound healing, and peripheral blood neutrophilic leukocytosis (loss of the marginating pool). NO PUS FORMATION .
Myeloperoxidase (MPO) deficiency.
Differs from CGD in that both 02•- and H202 are produced (normal respiratory burst)
Absence of MPO prevents synthesis of HOCI.
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