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

[Oner Ozdemir]

Dear Dr Conway;

There is no consanguinity.
We can't do microarrays.

Thanks..

On Wed, Jul 11, 2012 at 4:23 PM, Daniel Conway <dhconway at hotmail.com> wrote:


> Is there consanguinity?

>

> Is there any region of homozygosity on microarrays?

>

> Dan

>

> Sincerely,

> Daniel H. Conway, MD

> Assistant Professor of Pediatrics

> St. Christopher's Hospital for Children

> Drexel University College of Medicine

>

> On Jul 11, 2012, at 8:53 AM, "Oner Ozdemir" <oner.ozdemir.md at gmail.com>

> wrote:

>

> 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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>> -- ****

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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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>> ************************************************************************************

>> This footnote confirms that this email message has been scanned by

>> PineApp Mail-SeCure for the presence of malicious code, vandals &

>> computer viruses.

>>

>> ************************************************************************************

>> ****

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>> ************************************************************************************

>> This footnote confirms that this email message has been scanned by

>> PineApp Mail-SeCure for the presence of malicious code, vandals &

>> computer viruses.

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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.

>

>

>

>

>

>



-- 
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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