Patient | Sex | Age (years) | Time from onset to diagnosis | Clinical manifestation | Affected organs | Family history | Base diseases | Medical history | Mutant gene | Concurrent opportunistic pathogens | Pathogenic confirmed specimens |
---|---|---|---|---|---|---|---|---|---|---|---|
P1 | Female | 8 | 1 month | Fever, cough, enlarged lymph nodes, enlarged liver and spleen, rash | lung, liver, spleen, lymph node, and skin | None | Mild malnutrition | Splenic tuberculosis, varicella, RRTI | STAT1 | None | Lung tissue biopsy culture |
P2 | Male | 1.2 | 3 months | Fever, cough, enlarged liver and spleen | lung, liver, and spleen | None | Mild malnutrition | Axillary abscess, RRTI, Salmonella typhimurium infection | CD40LG | None | Blood culture |
P3 | Male | 8.7 | 2 months | Fever, cough, hemoptysis, enlarged lymph nodes, enlarged liver and spleen | respiratory tract, liver, spleen, lymph node | None | Moderate malnutrition | None | STAT1 | None | Lymph node biopsy tissue culture, BALF mNGS |
P4 | Male | 1.3 | 1 month | Wet cough, wheezing, hoarseness, shortness of breath, wet rales, enlarged liver and spleen | respiratory system, liver, and spleen | None | None | None | STAT1 | Aspergillus sp., Pneumocystis jirovecii | BALF mNGS, BALF smear microscopic exam |
P5 | Male | 0.67 | 20 days | Fever, cough, anemia, rash, enlarged liver and spleen, hematuria | lung, liver and spleen, skin, urinary system | Brother died of TM infection | SCID | None | IL2RG | Pneumocystis jirovecii | Blood culture, sputum culture, medullo culture |
P6 | Male | 6 | 20 days | Fever, cough, enlarged cervical lymph nodes, thrush, enlarged liver and spleen, moist rales, hemophagocytic lymphohistiocytosis | lung, liver, spleen, lymph node, and blood system | None | None | None | Uncertain | None | Blood smear, blood culture, lymph node biopsy, BALF, blood mNGS |