[CIS-PAGID] Suspected PID case

[Juan Carlos Aldave Becerra]

Dear Dr. Ehl,
Yes, the boy has hepatosplenomegaly (ultrasonography report).
I will talk with the parents and request another bone marrow analysis. I think JMML is a possibility.What else should I request? Karyotype in bone marrow cells or Hb electrophoresis may help?
Thank you very much,
Juan Carlos


> To: pagid at list.clinimmsoc.org

> From: stephan.ehl at uniklinik-freiburg.de

> Date: Mon, 28 May 2012 14:55:16 +0200

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

> 

> 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] 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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