[CIS PIDD] Making Diagnosis of LAD -leukocyte adhesion defect- 1

[Amos Etzioni]

Dear Oner
First of all we need to know what is the leukocyte count and the clinical symptoms ( delay separation of the cord?). If indeed the WBC is very high and there are symptoms characteristic for LAD I, I would go for genetic analysis. There are rare case ( Hogg et al. JCI 1999) in which the mutation caused a nonfunctional but expressed CD18.
As far as I know there is no fix number for CD18 expression, but one can say that normally we see more than 80% expression
Amos

Amos Etzioni MD
Professor of Pediatrics and Immunology
Director - Meyer Children's Hospital
Bat- Galim, Haifa, Israel 31096
Tel- 972-4-854 2936
Fax- 972-4-854 1870
Email - etzioni at rambam.health.gov.il



From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Oner Ozdemir
Sent: Wednesday, July 11, 2012 2:20 PM
To: pagid at list.clinimmsoc.org
Subject: [CIS PIDD] Making Diagnosis of LAD -leukocyte adhesion defect- 1

Dear All,

We are dealing a patient suggestive of leukocyte adhesion defect -1.

The patient is borne with C/S, G3P3, pair of twins, with sterile cerebral abscesses. And there is a sibling to this twins is 5-year-old and healthy.

CBC: normal, Ig GAME: normal, lymphocyte subpopulations: normal in the patient.

On this patient, flow cytometry revealed that borderline low CD18 expression (80 %) on lymphocytes, but neutrophil and monocyte CD18 expression within normals (above 90 %).

And the lymphocyte expressions of CD11a /CD18: 19 %; CD11b /CD18: 2 %; CD11c /CD18: 11 % seemed to be low.


My questions are:

1- Even though total CD18 expression on lymphocytes is borderline low; can we make a diagnosis of LAD with one of the lower expresions of CD11a /CD18, CD11b /CD18, CD11c /CD18 on just lymphocytes?

2- Should these low expressions of CD11a /CD18, CD11b /CD18, CD11c /CD18 with CD18 epression be on the monocytes and neutrophils in addition to lymphocytes at the same time to make a diagnosis?

3- Any normal reference values for CD11a /CD18, CD11b /CD18, CD11c /CD18 expressions in children?


Best Regards;

Oner Ozdemir, MD














--


Öner Özdemir, MD
Chief and Assoc. Prof. Pediatrics
Republic of Turkey, Ministry of Health, İstanbul Medeniyet University,
Göztepe Research and Training Hospital
Göztepe, Kadıköy, İSTANBUL -TÜRKİYE.








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