Research Article
Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome
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 | | (+)* | | (+) | | | | |
| | P2 | 12 | 48 | 36 | 11 y | (+) | 4 y, IR | | (+)* | (+) | | (+) | (+) | Impetigo;
perianal abscess | VZV |
| | P3 | 6 | 12 | 6 | D | (+) | 1 y, R | (+) | (+) | | (+)* | (+) | (+) | Elevated liver enzyme;
perianal abscess;
eczema | |
| | P4 | 15 | 20 | 5 | L | (+) | 19 m, IR | | | (+) | (+) | (+) | | Encephalitis*;
elevated liver enzyme;
sepsis;
thrush;
laryngitis | Candida albicans; Pseudomonas aeruginosa |
| | P5 | 12 | 180 | 168 | D | | NA | | (+)* | | (+) | | (+) | SSPE;
cerebral infarction;
arthritis;
eczema;
urticaria | VZV;
Measles;
Shigella |
| | P6 | 2 | 61 | 59 | 9 y | (+) | 5 y, R | (+) | (+) | | (+) | (+) | (+) | BCGitis*
impetigo;
sepsis;
appendicitis;
hepatitis; | HBV;
Pseudomonas aeruginosa |
| | P7 | 5 | 54 | 49 | 7 y | | 5 y, R | | | (+) | (+) | | (+) | BCGitis* | |
| | P8 | 4 | 123 | 119 | 27 y | | 3 y, R | (+) | (+) | | (+) | (+)* | (+) | Arthritis | |
| | P9 | 12 | 48 | 36 | L | (+) | 4 y, IR | | | (+) | (+) | (+)* | (+) | Chronic kidney disease;
arthritis; | |
| | P10 | 9 | 60 | 51 | 9 y | | 2 y 5 m, R | (+) | (+) | | | (+)* | (+) | Crohn’s disease | |
| | P11 | 12 | 192 | 180 | 21 y | | NA | | | (+) | (+) | (+)* | | Ulcerative colitis;
intestinal perforation;
elevated liver enzyme;
chronic kidney disease;
arthritis | Cryptosporidium |
| | P12 | 5 | 60 | 55 | 7 y | (+) | 2 y 3 m, IR | | (+) | (+) | (+) | (+) | (+) | BCGitis* | Mycobacterium tuberculosis |
| | P13 | 12 | 36 | 24 | D | | 3 y, R | (+) | (+) | | (+)* | (+) | (+) | Hepatosplenomegaly | Fungus |
| | P14 | 8 | 105 | 97 | D | | 20 m, IR | | | (+) | (+) | (+)* | (+) | Tuberculous meningitis | Mycobacterium tuberculosis |
| | P15 | 6 | 77 | 71 | 11 y | | 7 y, IR | | (+) | (+) | (+)* | | | Perianal abscess;
facial cellulitis;
red blood cell aplastic anemia | |
| | P16 | 0.67 | 60 | 59.33 | 6 y | | 3 y 4 m, R | | | (+) | (+) | (+)* | | BCGitis;
asthma;
urticaria | |
| | P17 | 14 | 21 | 7 | D | (+) | NA | | | | (+) | (+)* | | BCGitis | |
| | P18 | 21 | 49 | 28 | 5 y | (+) | NA | | (+) | (+) | (+)* | | (+) | | |
| | P19 | 3 | 17 | 14 | 2 y | (+) | NA | | (+) | | (+) | | (+) | BCGitis* | |
| | P20 | 6 | 41 | 35 | 4 y | | 3 y, R | (+) | (+) | (+) | (+)* | | (+) | | |
| | Total | | | | | 10 | | 6 | 13 | 11 | 18 | 13 | 14 | | |
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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.
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