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Article

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

Journal of clinical immunology - 1 Sept 2010

Parvaneh Nima, Mamishi Setareh, Rezaei Amir, Rezaei Nima, Tamizifar Banafshe, Parvaneh Leila, Sherkat Roya, Ghalehbaghi Babak, Kashef Sara, Chavoshzadeh Zahra, Isaeian Anna, Ashrafi Farzaneh, Aghamohammadi Asghar

Abstract excerpt

BACKGROUND: Leukocyte adhesion deficiency type 1 (LAD I) is an autosomal recessive disorder caused by mutations in the ITGB2 gene, encoding the beta2 integrin family. Severe recurrent infections, impaired wound healing, and periodontal diseases are the main features of disease. METHODS: In order to investigate clinical and molecular manifestations of new LAD I cases, 11 patients diagnosed in one center during 7...

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Identifiers

PMID: 20549317
DOI: 10.1007/s10875-010-9433-2

Genes

ITGB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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