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

[Oner Ozdemir]

Dear Dr Verbsky;

Klebsiella pneumonia grew from anal abscess. When she was diagnosed, she
was 15-day-old. Cultures were taken in the beginning before antibiotics.
WBC count came down under the influence of antibiotics.
Her chemotaxis assay was found to be normal.

Thanks for your input.

Regards;

Oner



On Wed, Jul 11, 2012 at 6:28 PM, Verbsky, James <jverbsky at mcw.edu> wrote:


> Oner****

>

> ** **

>

> Was the anal abscess sterile as well?  Were they on Abx?  My question is

> whether these are  really infections.  How old were they when the abscesses

> were discovered?  I would expect there to be bacteria in the abscess if off

> Abx.  The fact that the WBC came down and no delayed separation would argue

> against LAD. If the WBC came down on Abx…its harder to interpret. ****

>

> ** **

>

> I would suggest a functional assay.  Migration studies could be helpful if

> available.  An uncontrolled but easy way to test this is to look at

> blasting lymphocytes to determine if they aggregate after 2-3 days.  They

> should form tight round aggregates.  This is integrin dependent.  We have

> done this with CD18 blocking antibodies and the cells divide but do not

> form the aggregates.  Similar results were seen with a RAC2 mutant patient.

> ****

>

> ** **

>

> James****

>

> ** **

>

> ** **

>

> James W. Verbsky MD/PhD****

>

> Associate Professor of Pediatric,s and Medical Microbiology and Genetics**

> **

>

> Medical College of Wisconsin****

>

> Milwaukee, WI  53211****

>

> jverbsky at mcw.edu****

>

> 414-266-6701 (phone)****

>

> 414-266-6695 (fax)****

>

> ** **

>

>   ****

>

> ** **

>

> *From:* pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Daniel Conway

> *Sent:* Wednesday, July 11, 2012 8:24 AM

> *To:* pagid at list.clinimmsoc.org

> *Subject:* Re: [CIS PIDD] Making Diagnosis of LAD -leukocyte adhesion

> defect- 1****

>

> ** **

>

> 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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> ****

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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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-- 
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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