Objectives: Backgroung: Primary immunodeficiencies(PIDS)are rare,inherited diseases,characterized by altered function or absence of immune cells.Among them is leukocyte adhesion deficiency type I (LAD-I),a rare autosomal recessive disorder characterized by primary immunodeficiency,caused by mutations in the ITGB2 gene and characterized by inability of leucocytes to migrate from the circulation towards the area of inflammation and associated recurrent and life-threatening bacterial infections. Pyoderma gangrenosum (PG) is an uncommon noninfectious neutrophilic dermatosis characterized by recurrent,sterile,
Introduction: Observation: Here we present a yemenian family with LAD-I from consanguineous relatives.All patients had history of chronic recurrent skin ulcerations, without bleeding tendency, requiring steroids and antibiotics, associated with persistent neutrophilia, without history of delayed cord separation, initially diagnosed as epidermolysis bullosa, successively as PG. LAD-I should be kept in mind while evaluating patients with PG especially in children with persistent neutrophilia in the absence of other rheumatological disorders.
Materials / method: Keynote: Diagnosis of LAD-I is extremely important for management, as treating these patients without adequate antibiotic cover may be fatal, as happened to one of them, and these patients often require hematopoietic stem cell transplantation for permanent cure, therefore genetic counseling especially on consanguineous parents is mandatory.
Results: Key words: adhesion defects- bacterial infections- exome sequencing- leucocyte adhesion deficiency- primary immunodeficiencies.
Disclosures
Did you receive any funding to support your research for this TOPIC?
No
Were you provided with any honoraria, payment or other compensation for your work on this study?
No
Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No
Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No
This work was not supported by any direct or non direct funding. It is under the author's own responsability