[CIS-PAGID] Suspected PID case

[John Ziegler]

Have you considered PAPA, PSTPIP1 - http://rapid.rcai.riken.jp/RAPID/diseasePhenotype?pid_id=AGID_108? At 16 months the phenotype will not have fully evolved.

 

-----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, 28 May 2012 9:02 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.

>

>

>