Immunodeficiency 30D81.8

Immunodeficiency 30, or IMD30 for short, results from an autosomal recessive inherited IL12RB1 deficiency.

Activated T lymphocytes and natural killer lymphocytes from IMD30 patients do not express IL12RB1 on their surface or (more rarely) non-functional IL12RB1 on their surface. IMD30 patients therefore do not respond to IL12 and IL23, and the clinical picture of patients with IL12RB1 deficiency is similar to that of patients with IL12B deficiency. The consequence of IL12RB1 deficiency is mycobacteriosis and salmonellosis. Salmonellosis occurs in about half of patients with IL12RB1 deficiency. Somewhat less common are tuberculosis infections or other infections.

IMD30 has low penetrance; patients have a relatively mild disease course and a good prognosis (Al-Muhsen et al. 2008).

Fieschi et al (2003) identified 41 patients in 29 families from 17 countries in Africa, the Americas, Europe, and Asia with complete IL12RB1 surface expression deficiency. Opportunistic infections in childhood with low-virulence Salmonella and mycobacteria were observed in 34 patients. 3 patients had clinical tuberculosis, and 1 patient suffered from salmonellosis. Salmonellosis, but not mycobacterial infections, recurred. Death before 8 years of age occurred in 5 patients, 3 due to M. avium in non-BCG-vaccinated children and 2 due to disseminated BCG. Fieschi et al (2003) concluded that the overall prognosis was good because of the broad resistance to infection, low clinical penetrance, and favorable outcome of the infections.

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