Table 1.

Baseline characteristics of patients with LIG4 mutations

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

The primary symptom was listed at first in the table of clinical presention

M Male, F Female, NA no available, BALF brocho-alveolar larage fluid, UCBSCT Umbilical cord blood stem cell transplantation