Table 1.
Clinical features of patients with XHIGM phenotype.
| Patients | Onset age (m) | Diagnosis age (m) | Diagnosis lag (m) | Status | Family history | Time for IVIG | HSCT | Oral ulcer | Otitis media | Recurrent sinopulmonary infections | Recurrent diarrhea | Neutropenia | Other significant events | Special pathogens |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | 18 | 84 | 66 | L | (+) | 7 y, IR | (+)∗ | (+) | ||||||
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| P2 | 12 | 48 | 36 | 11 y | (+) | 4 y, IR | (+)∗ | (+) | (+) | (+) | Impetigo; perianal abscess |
VZV | ||
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| P3 | 6 | 12 | 6 | D | (+) | 1 y, R | (+) | (+) | (+)∗ | (+) | (+) | Elevated liver enzyme; perianal abscess; eczema |
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| P4 | 15 | 20 | 5 | L | (+) | 19 m, IR | (+) | (+) | (+) | Encephalitis∗; elevated liver enzyme; sepsis; thrush; laryngitis |
Candida albicans; Pseudomonas aeruginosa | |||
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| P5 | 12 | 180 | 168 | D | NA | (+)∗ | (+) | (+) | SSPE; cerebral infarction; arthritis; eczema; urticaria |
VZV; Measles; Shigella |
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| P6 | 2 | 61 | 59 | 9 y | (+) | 5 y, R | (+) | (+) | (+) | (+) | (+) | BCGitis∗ impetigo; sepsis; appendicitis; hepatitis; |
HBV; Pseudomonas aeruginosa |
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| P7 | 5 | 54 | 49 | 7 y | 5 y, R | (+) | (+) | (+) | BCGitis∗ | |||||
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| P8 | 4 | 123 | 119 | 27 y | 3 y, R | (+) | (+) | (+) | (+)∗ | (+) | Arthritis | |||
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| P9 | 12 | 48 | 36 | L | (+) | 4 y, IR | (+) | (+) | (+)∗ | (+) | Chronic kidney disease; arthritis; |
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| P10 | 9 | 60 | 51 | 9 y | 2 y 5 m, R | (+) | (+) | (+)∗ | (+) | Crohn's disease | ||||
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| P11 | 12 | 192 | 180 | 21 y | NA | (+) | (+) | (+)∗ | Ulcerative colitis; intestinal perforation; elevated liver enzyme; chronic kidney disease; arthritis |
Cryptosporidium | ||||
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| P12 | 5 | 60 | 55 | 7 y | (+) | 2 y 3 m, IR | (+) | (+) | (+) | (+) | (+) | BCGitis∗ | Mycobacterium tuberculosis | |
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| P13 | 12 | 36 | 24 | D | 3 y, R | (+) | (+) | (+)∗ | (+) | (+) | Hepatosplenomegaly | Fungus | ||
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| P14 | 8 | 105 | 97 | D | 20 m, IR | (+) | (+) | (+)∗ | (+) | Tuberculous meningitis | Mycobacterium tuberculosis | |||
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| P15 | 6 | 77 | 71 | 11 y | 7 y, IR | (+) | (+) | (+)∗ | Perianal abscess; facial cellulitis; red blood cell aplastic anemia |
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| P16 | 0.67 | 60 | 59.33 | 6 y | 3 y 4 m, R | (+) | (+) | (+)∗ | BCGitis; asthma; urticaria |
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| P17 | 14 | 21 | 7 | D | (+) | NA | (+) | (+)∗ | BCGitis | |||||
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| P18 | 21 | 49 | 28 | 5 y | (+) | NA | (+) | (+) | (+)∗ | (+) | ||||
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| P19 | 3 | 17 | 14 | 2 y | (+) | NA | (+) | (+) | (+) | BCGitis∗ | ||||
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| P20 | 6 | 41 | 35 | 4 y | 3 y, R | (+) | (+) | (+) | (+)∗ | (+) | ||||
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| Total | 10 | 6 | 13 | 11 | 18 | 13 | 14 | |||||||
Note: (a) L: lost in followup; D: dead; R: regularly; IR: irregularly; NA: not available; y: year; m: month; IVIG: intravenous immunoglobulin; HSCT: hematopoietic stem cell transplantation; VZV: varicella zoster virus; HBV: hepatitis B virus. (b) ∗initial symptom.