Recurrent Salmonellosis in a Child with Complete IL-12Rbeta1 Deficiency

Document Type



Paediatrics and Child Health


A 3 year old boy presented with fever, abdominal pain and cervical lymphadenopathy. He had previously been treated empirically with anti-tuberculous therapy twice, at age 9 months and 27 months, for peripheral lymphadenopathy. An older sibling died of suspected tuberculous meningitis. Mantoux test was normal. Bone marrow and lymph node biopsy ruled out lymphoma and absolute neutrophil and lymphocyte counts were normal. Blood and lymph node cultures were positive for Salmonella typhi. The child's symptoms resolved with IV ceftriaxone and he was discharged. Over the next 2 years, the child was admitted every 2-3 months for culture positive S. typhi bacteremia with complaints of fever, abdominal distention and dysentery. HIV workup was negative. A prolonged course of probenicid and high dose amoxicillin increased interval between episodes to 4-5 months only. Cholecystectomy was debated and deferred due to suspicion of immunodeficiency. Blood samples from patient and parents were sent to France for workup and IL-12Rbeta1 deficiency was found. Parental counseling and subsequent patient management remained difficult in view of financial constraints and outstation residence of family. At age 7 years, the child presented with small bowel obstruction. He was managed conservatively with antibiotics, IV fluids and blood transfusions, but eventually succumbed to endotoxic shock. This case highlights the importance of considering IL-12Rbeta1 deficiency in children with repeated salmonellosis, a diagnosis which precludes intensive and aggressive monitoring and management of the patient in scenarios where bone marrow transplants are not feasible.


Journal of Immunodeficiency and Disorders