Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Koker Lab, |
RCV001374421 | SCV001558956 | pathogenic | Leukocyte adhesion deficiency 1 | 2019-03-20 | no assertion criteria provided | clinical testing | We showed this variant on four Syrian related patients, all of them presented as LAD-1 and by flow cytometry loss of CD18 (encoded by ITGB2) is shown but even though the mutation is damage causing and certainly complete lack of integrin molecules ; unexpectedly Patient has pus formation and milder clinical phenotype. "Nezihe K. PUS FORMATION WITHIN LAD : AN UNCONVENTIONAL PRESENTATION OF A LAD TYPE I, Poster presented at ESID 2019 Annual Meeting, no:625 18-21 September 2019, Brussels" |