A 30-Month-Old Boy with Recurrent Fever

This case describes a 30-month-old boy hospitalized three times over four weeks for recurrent fever, respiratory symptoms, limp, and elevated inflammatory markers. Imaging revealed pulmonary opacities, mediastinal lymphadenopathy, and multiple hypoechoic splenic lesions. His older brother had disseminated Mycobacterium avium infection diagnosed as MSMD due to autosomal recessive IFNGR2 deficiency. Cultures from blood, bone marrow, bronchoalveolar lavage, gastric aspirate, and lymph node biopsy identified Mycobacterium kansasii, later M. abscessus. Immunophenotyping revealed a complete absence of STAT1 phosphorylation, consistent with autosomal recessive complete IFNGR2 deficiency. The patient began combination antimicrobial therapy and remains clinically stable. Long-term prognosis remains guarded due to limited immune augmentation options and challenges in family engagement with curative stem-cell transplant discussions.

This case describes a 30-month-old boy hospitalized three times over four weeks for recurrent fever, respiratory symptoms, limp, and elevated inflammatory markers. Imaging revealed pulmonary opacities, mediastinal lymphadenopathy, and multiple hypoechoic splenic lesions. His older brother had disseminated Mycobacterium avium infection diagnosed as MSMD due to autosomal recessive IFNGR2 deficiency. Cultures from blood, bone marrow, bronchoalveolar lavage, gastric aspirate, and lymph node biopsy identified Mycobacterium kansasii, later M. abscessus. Immunophenotyping revealed a complete absence of STAT1 phosphorylation, consistent with autosomal recessive complete IFNGR2 deficiency. The patient began combination antimicrobial therapy and remains clinically stable. Long-term prognosis remains guarded due to limited immune augmentation options and challenges in family engagement with curative stem-cell transplant discussions.