Table 1 Baseline characteristics of patients with LIG4 mutations
From: LIG4 syndrome: clinical and molecular characterization in a Chinese cohort
Patients | P1 | P2 | P3 | P4 | P5 | P6 | P7 |
|---|---|---|---|---|---|---|---|
Age at presentation | 11 m | 1 m | 1w | 4 m | 1 m | 14 m | 6 m |
Age of diagnosis | 21 m | 18 m | 15 m | 6 m | 3 m | 28 m | 38 m |
Sex | M | M | F | M | M | F | F |
Birth Weight | 2050 g | 2770 g | 2100 g | NA | 2700 g | 2550 g | 2300 g |
Family history | – | + | – | – | + | – | – |
Microcephaly | + | + | + | + | + | – | + |
Facial dysmorphism | – | – | – | – | – | – | – |
Developmental retardation | + | – | + | – | – | – | – |
Growth restriction | + | + | + | + | + | + | + |
Clinical presentation | Diarrhea, thrombocytopenia, pneumonia, otitis media, thrush, vitiligo | Pneumonia, canker sores, recurrent fever, diarrhea, intestinal ulceration, impaired liver function | Omphalitis, pneumonia, thrush, leukopenia, canker sores, diarrhea, skin and soft tissue infection | Erythroderma, pneumonia, diarrhea, thrombocytopenia | Eczema, generalized lymphadenopathy | Pneumonia, thrush, canker sores, herpes simplex, diarrhea, pancytopenia | Recurrent upper respiratory tract infection, diarrhea, otitis media, pneumonia, thrombocytopenia, leukopenia |
Pathogenic microorganism | Sputum: Acinetobacter baumannii, Parainfluenza virus 3, Acinetobacter pittii, Candida albicans, Staphylococcus haemolyticus, Enterobacter cloacae, Klebsiella pneumoniae, Flavobacterium menigosepticum | Sputum: Respiratory syncytial virus | Blood: Staphylococcus hominis; Excrement: Salmonella typhimurium | BALF: Haemophilus influenzae, Pneumocystis, Flavobacterium menigosepticum; Sputamentum: Parainfluenza virus 3 | Negative | Excrement: Salmonella enteritidis | Sputum: Pseudomonas aeruginosa |
Treatment | UCBSCT | Antibiotics, steroid | Antibiotics | Antibiotics | Antibiotics | Antibiotics | Antibiotics |
Follow-up | Died | Died | Lost | Died | Died | Lost | Alive |