Primary immunodeficiencies in the adults

1. Big picture

Primary immunodeficiencies are now often called inborn errors of immunity (IEI). They are genetic immune-system defects, but they do not always present in childhood. Many adults are first diagnosed after years of “ordinary” recurrent infections, bronchiectasis, autoimmune disease, chronic diarrhea, lymphadenopathy, splenomegaly, or lymphoma.

For the final exam, the most important adult primary immunodeficiency is:

Common variable immunodeficiency (CVID): recurrent sinopulmonary infections + low IgG with low IgA and/or IgM + poor vaccine response + exclusion of secondary causes.

Adult warning signs include recurrent sinusitis, otitis, pneumonia, chronic diarrhea/weight loss, recurrent viral infections, deep abscesses, persistent fungal infection, need for intravenous antibiotics, autoimmunity, lymphadenopathy, splenomegaly, and family history. AAAAI lists recurrent/unusual/difficult infections, recurrent pneumonia/sinusitis/otitis, need for repeated antibiotics/IV antibiotics, deep abscesses, swollen lymph nodes/splenomegaly, autoimmune disease, and family history as important clues. ([AAAAI][1])

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