Novel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1

Leukocyte adhesion deficiency type 1 (LAD1) is a rare autosomal recessive hereditary disorder characterized by recurrent infections, impaired pus formation, delayed wound healing, omphalitis, and delayed separation of the umbilical cord as hallmark features of the disease. It results from mutations...

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Veröffentlicht in:	BioMed research international 2022, Vol.2022 (1), p.1141280-1141280
Hauptverfasser:	Bouhouche, Ahmed, Tabache, Yasmin, Askander, Omar, Charoute, Hicham, Mesnaoui, Nada, Belayachi, Lamiae, El Hafidi, Naima, Hardizi, Houyam, El Fahime, Elmostafa, Erreimi, Naima, Barakat, Abdelhamid, Khattab, Mohammed, Seghrouchni, Fouad, El Hassani, Amine
Format:	Artikel
Sprache:	eng
Schlagworte:	Adhesion Antibiotics Antimicrobial agents Bioinformatics Causes of CD18 antigen CD18 Antigens - genetics CD18 Antigens - metabolism Exons Fever Flow cytometry Gene deletion Gene mutations Genetic aspects Genetic disorders Genetic testing Hereditary diseases Humans Immunological deficiency syndromes Infant Infections Leukocyte-Adhesion Deficiency Syndrome - diagnosis Leukocyte-Adhesion Deficiency Syndrome - genetics Leukocyte-Adhesion Deficiency Syndrome - pathology Leukocytes Male Medical research Medicine, Experimental Molecular modelling Monoclonal antibodies Mutation Mutation - genetics Neutrophils Omphalitis Parents & parenting Patients Phenotype Phenotypes Proteins Software Umbilical cord Vaccines Wound healing
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