Primary immunodeficiency diagnosed at autopsy: a case report

Area of Science:

• Pediatric Pathology
• Immunology
• Forensic Medicine

Background:

• DiGeorge syndrome presents as severe infant immunodeficiency.
• Diagnosis involves clinical features, flow cytometry, molecular, and functional lymphocyte tests.
• Autopsy findings, including histology and immunohistochemistry, aid in diagnosing primary immunodeficiencies.

Observation:

• A four-month-old infant with recurrent respiratory infections and neurological decline died.
• Autopsy revealed thymic aplasia, bronchopneumonia, and invasive Aspergillus brain infection.
• Sibling deaths occurred under similar circumstances.

Findings:

• Microbial cultures showed multidrug-resistant bacteria (Klebsiella, Pseudomonas, Serratia, E. coli).
• Autopsy immunohistochemistry confirmed a reduction in T lymphocytes in splenic tissue.
• Thymic aplasia was a key gross autopsy finding.

Implications:

• Immunohistochemistry on autopsy tissues is a useful post-mortem diagnostic tool for DiGeorge syndrome.
• This case highlights the importance of comprehensive autopsy in diagnosing infant mortality.
• Early diagnosis of primary immunodeficiencies can improve outcomes and genetic counseling.