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β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).

Immunobiology - 1 May 2020

Nawaz Tipu Hamid, Raza Rubab, Jaffar Sadaf, Khan Alamgir, Anwar Muhammad Zeeshan, Ahmad Wasim, Raza Syed Irfan

Abstract excerpt

Leukocyte adhesion deficiency I (LADI) is an autosomal recessive type of primary immunodeficiency characterized by occurrence of repeated bacterial infections, impaired pus formation and wound healing. Genetic variations in the β-2 integrin subunit encoding gene ITGB2 have been implicated in causing the disorder. In the present study, we have investigated twelve patients presenting LAD1 features. After collecting...

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PMID: 32279896
DOI: 10.1016/j.imbio.2020.151938

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