[CIS-PAGID] Suspected PID case

[Juan Carlos Aldave Becerra]

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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