Differential Diagnosis for Recurrent Sepsis in Childhood and Adults
Single Most Likely Diagnosis
- Chronic Granulomatous Disease (CGD): This condition is characterized by the inability of phagocytic cells to kill certain bacteria and fungi due to a defect in the NADPH oxidase system. It leads to recurrent life-threatening infections, including sepsis, particularly in childhood but can persist into adulthood.
Other Likely Diagnoses
- Hyper-IgE Syndrome (Job Syndrome): Characterized by elevated IgE levels, eczema, and recurrent cutaneous and pulmonary infections. Sepsis can occur, especially if there are complications like pneumatoceles or bronchiectasis.
- DiGeorge Syndrome (22q11.2 deletion syndrome): This condition involves thymic hypoplasia leading to T-cell immunodeficiency, which can result in recurrent infections, including sepsis, though it's more commonly associated with viral and fungal infections.
- Wiskott-Aldrich Syndrome: An X-linked recessive disorder characterized by eczema, thrombocytopenia, and immunodeficiency, leading to recurrent infections, including sepsis.
Do Not Miss Diagnoses
- Severe Combined Immunodeficiency (SCID): Although SCID presents early in life with severe infections, some forms may have a later onset or milder course, making it crucial not to miss, as early diagnosis and treatment (like bone marrow transplantation) can be life-saving.
- Leukocyte Adhesion Deficiency (LAD): This rare condition impairs the ability of leukocytes to migrate to sites of infection, leading to recurrent bacterial and fungal infections, including sepsis, and omphalitis that does not heal.
Rare Diagnoses
- Hyper IgM Syndrome: Characterized by an inability to switch from IgM to other immunoglobulin isotypes, leading to recurrent infections, including sepsis, particularly due to encapsulated bacteria.
- Complement Deficiencies: Defects in the complement system can lead to increased susceptibility to certain infections, including Neisseria species, which can cause sepsis.
- Toll-Like Receptor (TLR) Pathway Deficiencies: These can lead to specific vulnerabilities to certain pathogens, potentially resulting in recurrent infections, including sepsis.