Early-onset chronic inflammatory disease associated with maternal microchimerism

Area of Science:

• Immunology
• Pediatrics
• Genetics

Background:

• Maternal microchimerism (mMc) involves maternal cells persisting in offspring.
• The role of mMc in pediatric autoimmune diseases is debated.
• Infantile-onset autoinflammatory disorders often present with complex, undiagnosed symptoms.

Purpose of the Study:

• To investigate the potential role of maternal microchimerism in a child with persistent unexplained fever and autoimmune features.
• To explore the diagnostic challenges in cases of infantile autoinflammatory disorders.

Main Methods:

• Case report of an 11-year-old boy with prolonged fever, rashes, and autoimmune markers.
• Clinical examination, laboratory tests (including autoantibodies, inflammatory markers, IL-6, BAFF), liver biopsy, and HLA typing.
• Detection of female cells in patient's skin and lymph nodes via histology.

Main Results:

• The patient presented with persistent fever, skin rashes, hepatic dysfunction, thrombocytopenia, and positive anti-dsDNA antibodies.
• Elevated inflammatory markers, IL-6, and B-cell activating factor were observed.
• Female cells were detected in the patient's tissues, indicating maternal microchimerism, despite negative HLA typing for noninherited maternal antigens.

Conclusions:

• Maternal microchimerism is suggested as a potential contributor to the pathogenesis of unexplained fever in infants.
• This case underscores the complexity of diagnosing infantile autoinflammatory disorders.
• Further research is needed to elucidate the mechanisms linking mMc to pediatric autoimmune conditions.