[CIS-PAGID] Suspected PID case

[Torgerson, Troy]

Bosco is in the midst of moving his lab back to Brazil but you might try emailing either him or Tom Fleisher at the NIH to see whether they are doing this there.

Alternatively, there are a number of clinical labs doing it in order to profile tumors:

http://www.bcm.edu/geneticlabs/index.cfm?pmid=13669
http://gps.wustl.edu/ckfinder/userfiles/files/GPSReq-Cancer%20Sequencingv2.pdf
http://www.arupconsult.com/Topics/ColorectalCancer.html

Best,
T

Troy R. Torgerson, MD PhD

Assistant Professor, Pediatric Immunology/Rheumatology
Director, Immunology Diagnostic Laboratory (IDL)
University of Washington and Seattle Children's Hospital

Address:
Seattle Children's Research Institute
1900 9th Ave., C9S-7
Seattle, WA  98101-1304

Tel:  (206) 987-7317
Fax:  (206) 987-7310

IDL Tel:  (206) 987-7IDL (-7435)
Web:  www.seattlechildrens.org/IDL


From: Juan Carlos Aldave Becerra <jucapul_84 at hotmail.com<mailto:jucapul_84 at hotmail.com>>
Reply-To: "pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>" <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Date: Monday, May 28, 2012 9:14 AM
To: "pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>" <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Subject: Re: [CIS-PAGID] Suspected PID case

Dear Dr. Torgerson,

Do you know where can I send a DNA sample for NRAS and KRAS sequencing?

Juan Carlos


> From: troy.torgerson at seattlechildrens.org<mailto:troy.torgerson at seattlechildrens.org>

> To: pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>

> Date: Mon, 28 May 2012 15:54:55 +0000

> Subject: Re: [CIS-PAGID] Suspected PID case

>

> Juan Carlos,

>

> I would also consider a somatic mutation in either NRAS or KRAS as

> described by Bosco Oliveira:

>

> http://www.pnas.org/content/104/21/8953.abstract

> http://bloodjournal.hematologylibrary.org/content/117/10/2883.full

>

> In our experience these kids can have a clinical picture very much as you

> describe in your patient. With any little infection (bacterial or viral),

> they can have a major leukamoid reaction as you describe accompanied by

> fever, rash, etc. Hepatosplenomegaly and lymphadenopathy are common. In

> most of these patients, JMML has to be excluded as Stephen suggests. To my

> knowledge, most of the patients described have not progressed to

> malignancy but it is a concern.

>

> Since mutations in NRAS and KRAS are also present in a large number of

> human cancers, there are a few clinical labs where you can get the

> sequencing done.

>

> Best,

> Troy

>

> Troy R. Torgerson, MD PhD

>

> Assistant Professor, Pediatric Immunology/Rheumatology

> Director, Immunology Diagnostic Laboratory (IDL)

> University of Washington and Seattle Children's Hospital

>

> Address:

> Seattle Children's Research Institute

> 1900 9th Ave., C9S-7

> Seattle, WA 98101-1304

>

> Tel: (206) 987-7317

> Fax: (206) 987-7310

>

>

> IDL Tel: (206) 987-7IDL (-7435)

> Web: www.seattlechildrens.org/IDL

>

>

>

>

>

> On 5/28/12 5:55 AM, "stephan.ehl at uniklinik-freiburg.de<mailto:stephan.ehl at uniklinik-freiburg.de>"

> <stephan.ehl at uniklinik-freiburg.de<mailto:stephan.ehl at uniklinik-freiburg.de>> wrote:

>

> >The monocytosis worries me.

> >Any hepatosplenomegaly?

> >I would repeat a bone marrow analysis and exclude MDS (JMML).

> >"Cellulitis" is not rare in this condition.

> >

> >Beste Grüße

> >

> >Prof. Dr. Stephan Ehl

> >Medizinischer Direktor

> >

> >UNIVERSITÄTSKLINIKUM FREIBURG

> >CCI - Centrum für Chronische Immundefizienz

> >

> >Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany

> >Telefon: +49(0)761.270-77300

> >Sekretariat +49(0)761.270-77550 fax +49(0)761.270-77600

> >e-mail: stephan.ehl at uniklinik-freiburg.de<mailto:stephan.ehl at uniklinik-freiburg.de>

> >

> >

> >

> >

> >

> >Von: "Amos Etzioni" <etzioni at rambam.health.gov.il<mailto:etzioni at rambam.health.gov.il>>

> >An: "pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>" <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>, Juan

> > Carlos Aldave Becerra <jucapul_84 at hotmail.com<mailto:jucapul_84 at hotmail.com>>

> >Datum: 28.05.2012 13:58

> >Betreff: Re: [CIS-PAGID] Suspected PID case

> >Gesendet von: pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org>

> >

> >

> >

> >Dear Juan Carlos

> >Aside from doing flow cytometry several clinical questions"

> >Delay separation of the umbilical cord?

> >What is his blood broup. If not Bombey LAD II can be ruled out.

> >Bleeding tendency- if not LAD III can be ruled out

> >Remember that if indeed WBC always above 50,000 even when no infection,

> >LAD

> >I is in the top of the list. In rare case dysfunction of integrin beta

> >(CD18) can occur although the CD18 is normally expressed on leukocytes. I

> >will start with flow and then move to genetics

> >Amos

> >

> >-----Original Message-----

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

> >mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of dmvascon at usp.br<mailto:dmvascon at usp.br>

> >Sent: Monday, May 28, 2012 2:02 PM

> >To: pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>; Juan Carlos Aldave Becerra

> >Subject: Re: [CIS-PAGID] Suspected PID case

> >

> >Dear Juan Carlos, good morning

> >

> >I would also think about the possibility of a leukocyte adhesion defect.

> >

> >This group of diseases can be screened by flow cytometry, looking for

> >CD18 (LAD1), CD15a (Sialyl Lewis X) for LAD2, and CD18/gpIIb/3a for

> >LAD3 (LAD3 presents a general activation defect affecting beta1, beta2

> >and beta3 integrins.

> >

> >On the other hand, it is also possible to think about autoinflammatory

> >syndromes, such as NALP-3/CIAS1 deficiency, familial mediterranean

> >fever, mevalonate kinase and NOD2 deficiencies, such as in your

> >patient early age is sometimes very difficult to ascertain the

> >response of fever episodes to antibiotics.

> >

> >Best regards,

> >

> >Dewton Vasconcelos

> >University of São Paulo School of Medicine

> >

> >Citando Juan Carlos Aldave Becerra <jucapul_84 at hotmail.com<mailto:jucapul_84 at hotmail.com>>:

> >

> >>

> >> I have been presented this case last week:

> >> Boy, 1.5

> >> years old

> >>

> >> Date

> >> of Birth: 23 December 2010

> >>

> >>

> >>

> >> No family history of PID

> >>

> >> Vaccinations: no adverse reaction to BCG

> >>

> >>

> >>

> >> Infections

> >>

> >> -

> >>> From 3 months old: upper respiratory infections, good response to oral

> >> antibiotics

> >>

> >> - 10

> >> months old: pneumonia, myeloid lineage hyperplasia (bone marrow

> >> smear), anemia.

> >> He had high fever (>39°C). Good clinical response to IV antibiotic.

> >> He received 01 package

> >> of red cells.

> >>

> >> - 10 months

> >> old: cellulitis in the left leg (knee, ankle), acute infectious

> >> diarrhea, good clinical response to antibiotics.

> >>

> >> - 14

> >> months old: cellulitis in the left ankle, chronic oligoarthritis,

> >leukemoid

> >> reaction, good clinical response to antibiotics.

> >>

> >> - 16

> >> months old: arthritis in the left knee, cellulitis in the left leg,

> >> good clinical response to antibiotics.- Patient has had many blood

> >> cultures during infections, without any microorganism detected

> >>

> >>

> >>

> >> Physical exam:

> >>

> >> Weight

> >> = 30th percentile

> >>

> >> No

> >> gingivitis, no periodontitis

> >>

> >> No

> >> skin lesions

> >>

> >> Lungs

> >> clear

> >>

> >>

> >>

> >> Work up:

> >>

> >> Marked

> >> leukocytosis in every WBC over his life, up to 70.000 per μL, also

> >> without infection, no

> >> corticosteroid use

> >>

> >> Monocytosis

> >> (20-50% of WBC)

> >>

> >> Normal

> >> platelets

> >>

> >> Mild-moderate

> >> anemia

> >>

> >> Chest

> >> XR: normal

> >>

> >> Bone

> >> marrow flux citometry analysis: no neoplasm

> >>

> >> Abdominal

> >> US: hepatosplenomegaly, mesenteric and retroperitoneal lymphadenopathy

> >>

> >> Normal

> >> levels of IgG, IgA, IgM, IgE

> >>

> >> Elevated

> >> ESR (up to 45 mm/h)Rheumatoid factor: normal values

> >>

> >>

> >>

> >>

> >> Problems/diagnosis:

> >>

> >>

> >> Recurrent skin infections

> >> Leukocytosis with monocytosis

> >> Moderate anemia

> >> Hepatosplenomegaly

> >>

> >> I would appreciate a lot your suggestions or questions.I have

> >> thought in Leukocyte Adhesion Deficiencies, but there is no history

> >> of periodontitis or necrotic skin lesions.I have also thought in TLR

> >> signalling defects but there is high fever and elevated CRP and ESR

> >> during infections.I wonder if the inflammation seen in the skin and

> >> joints are of infectious origin, owing to lack of microorganism

> >> detection. However, there was excellent response to antibiotics.

> >>

> >>

> >>

> >

> >

> >

> >

> >

> >

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