Always Sick

You see two patients who have the same diagnosis: a 3 year old child and a 23 year old adult who present because they are "always sick." They have recurrent infections including pneumonia, bronchitis, sinusitis, otitis, and conjunctivitis. Cultures have grown out Pneumococcus, Hemophilius, and Mycoplasma. For one of the patients, rhinovirus has been a persistent infection. For the other, a septic arthritis from Streptococci has caused problems.

Both patients suffer from chronic lung disease with bronchiectasis. Gastrointestinal manifestations in the older patient includes inflammatory bowel disease and nodular lymphoid hyperplasia, shown above. His alkaline phosphatase is elevated. The other patient suffers from diarrhea, weight loss, and nonspecific malabsorption. The older patient has autoimmune hemolytic anemia and thrombocytopenia. The younger patient has lymphadenopathy and splenomegaly; a biopsy might show noncaseating granulomas. The younger patient also has allergic rhinitis and asthma.

These patients have an increased risk of malignancies, especially for non-Hodgkin's lymphoma, almost always extra-nodal, well differentiated, and of B cell origin. Neither of these patients responds to vaccinations. Routine blood counts, serum chemistries, electrolytes, and urinalysis are normal.

Challenge: These variable manifestations describe what disease?

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