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

[Oner Ozdemir]

Dear Dr. Amos;



Thanks very much for your input.

WBC count is still within normal, ranged from 29,100 (initial) to 12,000
/mm3 in a couple of days. There was no delayed separation of cord.

This patient was asphyctic at birth, then intubated and admitted NICU.

Due to sterile brain abscesses, we investigated expressions and found to be
low just on the lymphocytes. Dihydrorhodamin 123 (DHR) was normal in this
patient.

- Her twin has had anal abscess during this time. Twin's DHR was normal.
Her twin has similar low expressions of CD11a/b/c-CD18 complex as well.

- Dr Amos, You said that more than 80%, does this mean CD11a/b/c-CD18
complex expression should be more than 80% or CD18 expression in general?

Best regards;


On Wed, Jul 11, 2012 at 3:02 PM, Amos Etzioni
<etzioni at rambam.health.gov.il>wrote:


>  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 ****

>

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> -- ****

>

>

>  ****

>

> 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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>  ****

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>



-- 
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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