IL-12RΒ1 DEFICIENCY PRESENTING WITH BCG LYMPHADENITIS


Tekeli S., Kara Y. , Kızıl M. C. , Koç S. , Belkaya S., Kılıç Ö. , ...More

The 12th World Congress of the World Society for Pediatric Infectious Diseases (WSPID), 22 - 24 February 2022, vol.1, no.91, pp.176

  • Publication Type: Conference Paper / Summary Text
  • Volume: 1
  • Page Numbers: pp.176

Abstract

Background: The BCG vaccine is one of six vaccines included in the World Health Organization's expanded vaccination program.Lymphadenitis may develop after BCG vaccination with cellular immune deficiency. BCG lymphadenitis is a common development in Mendelian susceptibility to mycobacterial disease (MSMD). The most common genetic deficiency in MSMD is IL-12R1 defiency. We present a case of lymphadenitis development following BCG vaccination with IL-12R1 defiency.

Case:An 11-month-old girl was brought in with swelling, redness, and discharge under her left armpit. The BCG vaccine had been applied when she was 2 months old, and the complaints of armpit swelling had developed at 6 months of age. Our physical examination identified a BCG vaccination scar on the left arm and a 2x2 cm ulcerated, painless lymphadenopathy in the anterior axillary region (Figure 1).The tuberculin skin test measured 11 mm and other laboratory analyses were normal. The lymph node was biopsied,acid-resistant bacteria were not found. The polymerase chain reaction for mycobacterium tuberculosis was negative. A lymph node histopathological examination revealed several lymphoid tissue fragments and lymphoid cells. A mutation in the IL12R1 gene was discovered with a sequence analysis to assess MSMD (Figure 2). During the follow-up, ulceration and lymphadenopathy regressed without anti-tuberculosis treatment (Figure 3).

Conclusions: Patients with local or widespread mycobacterial infections that have developed after BCG vaccination should be evaluated for immune deficiency. Especially in countries where consanguineous marriage is prevalent and BCG vaccine is routinely administered.