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Table 1 Baseline characteristics of patients with LIG4 mutations

From: LIG4 syndrome: clinical and molecular characterization in a Chinese cohort

PatientsP1P2P3P4P5P6P7
Age at presentation11 m1 m1w4 m1 m14 m6 m
Age of diagnosis21 m18 m15 m6 m3 m28 m38 m
SexMMFMMFF
Birth Weight2050 g2770 g2100 gNA2700 g2550 g2300 g
Family history++
Microcephaly++++++
Facial dysmorphism
Developmental retardation++
Growth restriction+++++++
Clinical presentationDiarrhea, thrombocytopenia, pneumonia, otitis media, thrush, vitiligoPneumonia, canker sores, recurrent fever, diarrhea, intestinal ulceration, impaired liver functionOmphalitis, pneumonia, thrush, leukopenia, canker sores, diarrhea, skin and soft tissue infectionErythroderma, pneumonia, diarrhea, thrombocytopeniaEczema, generalized lymphadenopathyPneumonia, thrush, canker sores, herpes simplex, diarrhea, pancytopeniaRecurrent upper respiratory tract infection, diarrhea, otitis media, pneumonia, thrombocytopenia, leukopenia
Pathogenic microorganismSputum: Acinetobacter baumannii, Parainfluenza virus 3, Acinetobacter pittii, Candida albicans, Staphylococcus haemolyticus, Enterobacter cloacae, Klebsiella pneumoniae, Flavobacterium menigosepticumSputum: Respiratory syncytial virusBlood: Staphylococcus hominis; Excrement: Salmonella typhimuriumBALF: Haemophilus influenzae, Pneumocystis, Flavobacterium menigosepticum; Sputamentum: Parainfluenza virus 3NegativeExcrement: Salmonella enteritidisSputum: Pseudomonas aeruginosa
TreatmentUCBSCTAntibiotics, steroidAntibioticsAntibioticsAntibioticsAntibioticsAntibiotics
Follow-upDiedDiedLostDiedDiedLostAlive
  1. The primary symptom was listed at first in the table of clinical presention
  2. M Male, F Female, NA no available, BALF brocho-alveolar larage fluid, UCBSCT Umbilical cord blood stem cell transplantation