Primary immunodeficiency means children are born with faulty immune genes, putting them at risk for unusually repeated infections, sometimes death. Today, many PI diseases are treatable if caught early, with regular infusions of immune components like gamma globulin or with a bone marrow transplant. Undiagnosed cases range from recurring infections deemed too minor to fully investigate, like chronic sinusitis and bronchitis, to fatalities blamed on pneumonia or meningitis where no one asked the underlying cause. Some suffer to adulthood without diagnosis. A woman diagnosed only after doctors discovered her newborn died because she hadn't had enough immune cells to pass on to her baby.
Diagnosis seems particularly problematic for minorities.
PI clinics like Cunningham-Rundles' draw mostly white patients, yet studies from other countries, and basic genetics, suggest faulty immunity should occur evenly among racial groups. Two or more months on antibiotics with little effect, or need for intravenous antibiotics. Two or more deep-seated infections. Failure of an infant to gain weight or grow normally. Recurrent, deep skin or organ abscesses.