Case of PID

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Case of PID

• Dr. Gustavo Lazo, MD
• National Childrens Hospital
• San Jose, Costa Rica
• 2008

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General Information

• Girl, born on October 7th, 1999.
• Non consanguineous parents.
• Healthy 10 years old brother.
• Other familiar antecedents are unremarkable.

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First admission

• 2 years old.
• Problems
• Failure to thrive.
• Watery diarrhea that started 8 months before the
  admission.
• Recurrent upper respiratory tract infections.
• Recurrent wheezing.

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Approach to the problems

• Infectious diseases
• HIV infection.
• Tuberculosis.
• Intestinal parasites.
• Allergy.

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Next step

• Cystic fibrosis
• Sweat test (Cl-) 23 mmol/L (lt40) and 53 mmol/L.
• We found two different mutations for CF by PCR.
• PID
• Immunoglobulins were normal (A, G, M, E).
• Interesting immunophenotyping.

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HLA expression
No antigens detected for class II
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Bare lymphocyte syndrome
www.lesc.imperial.ac.uk
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(No Transcript)
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BMT in BLS

• Can be curative.
• Better before the age of 2 years.
• Rate of success is high with an HLA-identical
  sibling.
• Gene therapy becomes a potential alternative to
  BMT.

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Our patients current therapy

• Pancreatic enzymes.
• Prophylactic antibiotics.
• IVIG.
• B2 agonist when needed.
• Not candidate for BMT (CF, no HLA-identical
  sibling).