[CIS PIDD] [CIS-PAGID] Suspected PID case

[fabrício prado monteiro]

Def. IL 1 receptor antagonist (CIMCA).
Please attention for " - Patient has had many blood cultures during
infections, without any microorganism detected..."

F!

On 28 May 2012 13:26, Torgerson, Troy
<troy.torgerson at seattlechildrens.org>wrote:


>   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>

> Reply-To: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>

> Date: Monday, May 28, 2012 9:14 AM

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

> > To: 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"

> > <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

> > >

> > >

> > >

> > >

> > >

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

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

> > > Carlos Aldave Becerra <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

> > >

> > >

> > >

> > >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<pagid-bounces at list.clinimmsoc.org>]

> On Behalf Of dmvascon at usp.br

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

> > >To: 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>:

> > >

> > >>

> > >> 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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