Rationale:Primary immunodeficiency disorders can be fatal especially in infants.Prompt recognition with a comprehensive medical history,genetic evaluation,and appropriate treatment can be lifesaving in a few subtypes....Rationale:Primary immunodeficiency disorders can be fatal especially in infants.Prompt recognition with a comprehensive medical history,genetic evaluation,and appropriate treatment can be lifesaving in a few subtypes.Patient concerns:A 4-month-old male infant presented with axillary swelling,fever,and ulcerative lesions.Despite care at multiple facilities,symptoms persisted,raising concern for an underlying immunodeficiency.The patient's sibling had similar symptoms and died at six months,suggesting a genetic predisposition.Diagnosis:Mendelian susceptibility to mycobacterial disease,IFNGR2 deficiency.Interventions:The patient was treated with tailored anti-tubercular therapy and azithromycin prophylaxis.Outcomes:Following treatment,the patient’s symptoms have resolved.At 20 months,he is thriving with normal development.Lessons:This case highlights the importance of a thorough medical history and genetic testing in infants with recurrent or unusual infections.Early diagnosis of mendelian susceptibility to mycobacterial disease can lead to effective treatment and better outcomes.展开更多
文摘Rationale:Primary immunodeficiency disorders can be fatal especially in infants.Prompt recognition with a comprehensive medical history,genetic evaluation,and appropriate treatment can be lifesaving in a few subtypes.Patient concerns:A 4-month-old male infant presented with axillary swelling,fever,and ulcerative lesions.Despite care at multiple facilities,symptoms persisted,raising concern for an underlying immunodeficiency.The patient's sibling had similar symptoms and died at six months,suggesting a genetic predisposition.Diagnosis:Mendelian susceptibility to mycobacterial disease,IFNGR2 deficiency.Interventions:The patient was treated with tailored anti-tubercular therapy and azithromycin prophylaxis.Outcomes:Following treatment,the patient’s symptoms have resolved.At 20 months,he is thriving with normal development.Lessons:This case highlights the importance of a thorough medical history and genetic testing in infants with recurrent or unusual infections.Early diagnosis of mendelian susceptibility to mycobacterial disease can lead to effective treatment and better outcomes.
