Leukocyte adhesion deficiency is a rare neutrophil disorder. Neutrophils can not migrate the inflammation site due to defect in the adhesion molecules; LFA-1 (CD11a/CD18; αLβ2), Mac-1 (CD11b/CD18; αMβ2), and p150/95 (CD11c/CD18; αXβ2) , respectively. Leucocytosis, lack of pus formation, recurrent infections and late seperation of umbilical cord are the main characteristics of the LAD type I.LAD I is due to mutations in a gene ITBG2 that encodes CD18,the β2 integrin subunit of the heterodimers LFA-1, Mac-1 (CR3) and p150,95. Here we present a case with complete lack of CD18 but still has some pus formation and milder phenotype.
Mutation detected with Sanger method on ITBG2 gene. Facs analysis was done for adhesion molecules :CD18 CD11b CD11c for gating neutrophils:CD45 .
Patient was born into a consanguinous parents who has lost previous child due to infection. Until At 7 months old patient had recurrent infections including purulent otitis media and pneumonia. CBC count showed WBC levels are high than normal(41,060) repeatedly. Through suspicion of LAD, FACS analysis detected CD11b and Cd18 absence in neutrophils. Genetical analysis also revealed C305_306delAA mutation on ITGB2 gene. Even though the mutation is damage causing and certainly complete lack of integrin molecules ; unexpectedly Patient has pus formation and milder clinical phenotype.
In conclusion, we reported an atypical presentation of LAD type 1 with complete lack of CD18 but still some pus formation controversially. During clinical follow up the patient had intraabdominal abcess then operated and still receiving antibiotic prophilaxis.HSCT is planned for complete recovery.