Frontiers in pediatrics · 2026
Case Report and literature review: X-linked severe combined immunodeficiency complicated by Talaromyces marneffei infection caused by a novel pathogenic IL2RG mutation.
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Qing Di, Lin Lin, Chen Fang, Peng Junzheng
Аннотация
BACKGROUND: X-linked severe combined immunodeficiency (X-SCID), caused by mutations in the gamma-chain gene of the interleukin-2 receptor (IL2RG), is a prevalent form of SCID characterized by recurrent and fatal opportunistic infections that occur early in life. Talaromyces marneffei (T. marneffei) infection rarely occurs in children and has a high mortality rate.
CASE PRESENTATION: The patient was a 7-month-old male infant who presented with recurrent cough, fever, and hepatosplenomegaly. Lymphocyte subset analysis confirmed the presence of T-B + natural killer immunodeficiency, and blood culture was positive for T. marneffei. Whole-exome sequencing revealed a novel microdeletion insertion mutation (c.818_819delins A (p. Ile273Lys fsTer21) in IL2RG, resulting in a rare shift in the amino acid sequence of the coding protein. The child was diagnosed with X-SCID due to a novel IL2RG mutation, which was further complicated by T. marneffei infection. Despite receiving systemic anti-infection treatment, the patient died 3 days after discharge. To the best of our knowledge, this novel IL2RG mutation has not been reported previously.
CONCLUSIONS: For early-onset T. marneffei infection, clinicians must maintain a high index of suspicion for underlying inborn errors of immunity, and definitive diagnosis hinges on genetic testing.
CASE PRESENTATION: The patient was a 7-month-old male infant who presented with recurrent cough, fever, and hepatosplenomegaly. Lymphocyte subset analysis confirmed the presence of T-B + natural killer immunodeficiency, and blood culture was positive for T. marneffei. Whole-exome sequencing revealed a novel microdeletion insertion mutation (c.818_819delins A (p. Ile273Lys fsTer21) in IL2RG, resulting in a rare shift in the amino acid sequence of the coding protein. The child was diagnosed with X-SCID due to a novel IL2RG mutation, which was further complicated by T. marneffei infection. Despite receiving systemic anti-infection treatment, the patient died 3 days after discharge. To the best of our knowledge, this novel IL2RG mutation has not been reported previously.
CONCLUSIONS: For early-onset T. marneffei infection, clinicians must maintain a high index of suspicion for underlying inborn errors of immunity, and definitive diagnosis hinges on genetic testing.