Severe mycobacterial diseases in a patient with GOF IκBα mutation without EDA

AJ Lee, M Moncada-Vélez, C Picard, G Llanora… - Journal of clinical …, 2016 - Springer
AJ Lee, M Moncada-Vélez, C Picard, G Llanora, CH Huang, L Abel, SM Chan, BW Lee…
Journal of clinical immunology, 2016Springer
To the Editor, We report a 9 year-old Chinese girl, born full term with no family history of
recurrent infections or immunodeficiency. She had received hepatitis B and BCG
vaccinations at birth without complications. She had multiple infections in infancy including
Klebsiella pneumoniae urinary tract infection at 1 month and another two episodes of
Klebsiella pneumoniae bacteremia at 2 and 10 months of age, all treated with intravenous
ceftriaxone with good recovery and documented clearance. However at 10 months, after …
To the Editor, We report a 9 year-old Chinese girl, born full term with no family history of recurrent infections or immunodeficiency. She had received hepatitis B and BCG vaccinations at birth without complications. She had multiple infections in infancy including Klebsiella pneumoniae urinary tract infection at 1 month and another two episodes of Klebsiella pneumoniae bacteremia at 2 and 10 months of age, all treated with intravenous ceftriaxone with good recovery and documented clearance. However at 10 months, after presenting with fever, a macular rash, and hepatosplenomegaly, she was diagnosed with extensive abdominal lymphadenopathy on CT scan. The abdominal lymph node biopsy showed granulomatous formation and sensitive Mycobacterium tuberculosis complex was cultured [1]. The intestinal tuberculosis was treated with rifampicin, isoniazid and pyrazinamide for 12 months with resolution of abdominal lymphadenopathy. At this time, the skin biopsy was clear of mycobacterial species. Immunophenotyping and immunoglobulins levels were normal at the time (Supplementary table 1). The patient’s blood was tested for IFN-γ and IL-12 production after stimulation with BCG, BCG+ IL-12 and BCG+ IFN-γ, respectively and showed a diminished production of both IFN-γ and IL-12 after BCG+ IL-12 and BCG+ IFN-γ, respectively as compared to the travel control (Supplementary table 2). Six months after stopping anti-tuberculosis therapy, the patient had tuberculosis infection of the skin manifesting as a painful erythematous plaque with scabbed nodules over the
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