Table 1. Clinical characteristics, laboratory examination and pathogenic gene detection of children with immunodeficiency.

Case	Gender	Age at onset	Clinical features	IgA (g/L)	IgM (g/L)	IgG (g/L)	CD3+ T (/μL)	CD8+ T (/μL)	CD4+ T (/μL)	NK cells (/μL)
P1	Male	1 year and 9 months	Repeated fever, with an oblique angle of the mouth, had a small abscess in the right hip, hip abscess incision, and drainage, postoperative right hip muscle atrophy	0.02↓	0.01↓	0.01↓	898.00	389.00	175.00	2,126.00
P2	Male	10 years old	Repeated lung infection, one brother died of infection	0.03↓	0.15↓	1.80↓	1,506.00	1,207.50	1,182.16	194.00
P3	Male	1 year old	Repeated pulmonary infection	0.05↓	0.20↓	1.14↓	6,757.00	1,593.00	4,584.00	154.00
P4	Male	4 months	Repeated pulmonary infection, lung abscess, with diarrhea	0.66	1.25	7.30	1,588.60	502.05	1,051.41	180.07
P5	Male	4 months	Severe sepsis, multiple organ dysfunction	0.00↓	0.15↓	1.13↓	8.00↓	3.00↓	3.00↓	16.00↓
P6	Male	13 years old	Bronchiectasis, oral candida infection (thrush), body spasm, malnutrition (severe), chronic superficial gastritis, hepatic bile duct dilatation, fistula	3.91	0.78	8.77	423.00↓	193.00↓	180.00↓	20.00↓
P7	Female	7 years old	Bronchial pneumonia, fungal infection (candida infection), diabetic ketoacidosis, otitis media	0.14↓	0.36↓	3.34↓	597.00↓	258.00↓	269.00↓	58.00
Case	Gender	Age at onset	Clinical features	B cell (/ìL)	Mutant gene	Codon change	Amino acid change	Mutation type	Diagnosis	Treatment and prognosis
P1	Male	1 year and 9 months	Repeated fever, with an oblique angle of the mouth, had a small abscess in the right hip, hip abscess incision, and drainage, postoperative right hip muscle atrophy	0.00↓	BTK	c.1921C>T	p. Arg641Cys	Hemizygous	XLA	Anti-infective and anti-fungal treatment, left abdominal dyskinesia, regular IVIG
P2	Male	10 years old	Repeated lung infection, one brother, died of infection	3.00↓	BTK	c.906-908del	p. Gly303del	Mixed	XLA	Anti-infective and anti-fungal treatment, combined with poor prognosis of bronchiectasis
P3	Male	1 year old	Repeated pulmonary infection	0	BTK	c.718delG	p. Glu240fs	Hemizygous	XLA	Early diagnosis, no serious infection, no prognosis, regular IVIG
P4	Male	4 months	Repeated pulmonary infection, lung abscess, with diarrhea	929.3	CYBB	c.469C>T	p. Arg157X	Hemizygous	XCGD	Anti-infective and anti-fungal treatment, Shanghai blood stem cell transplantation therapy
P5	Male	4 months	Severe sepsis, multiple organ dysfunction	12.00↓	IL2RG	c.202G>A	p. Glu68Lys	Hemizygous	XSCID	Death after giving up treatment
P6	Male	13 years old	Bronchiectasis, oral candida infection (thrush), body spasm, malnutrition (severe), chronic superficial gastritis, hepatic bile duct dilatation, fistula	126.00	STAT1	c.854A>G	p. Glu285Asp	Mixed	PID (STAT1)	Anti-infective and anti-fungal treatment, combined with poor prognosis of bronchiectasis
P7	Female	7 years old	Bronchial pneumonia, fungal infection (candida infection), diabetic ketoacidosis, otitis media	38↓	STAT1	c.1154C>T	p. Thr385Met	Mixed	PID (STAT1)	Anti-infective and anti-fungal treatment, standardized management of diabetes