Table 2.

Clinical and laboratory data of patients with genetic diagnosis.

Case	Sex	Age		Clinical diagnosis	Clinical characteristics	IgG (mg/dl)	IgA (mg/dl)	IgM (mg/dl)	B cell (%)	T cell (%)	NK cell (%)	CD4+ T cell%* (/µl)	CD8+ T cell%* (/µl)
		Symptom onset	At diagnosis
1	Male	6M	6M	Hypogammaglobulinemia	–	59 ↓	<5 ↓	11 ↓	0.4	95.8	3.6	69.5 (4,731)	24.4 (1,661)
2	Female	2M	4M	Hemophagocytic lymphohistiocytosis	Recurrent fever and infection (sepsis, meningitis), pancytopenia, splenomegaly	524 ↓	64 ↓	38 ↓	3.4	93.8	2.5	62.7 (3,501)	31.7 (1,770)
3	Female	8Y	33Y	Hyperimmunoglobulin E syndrome	Recurrent fever and infection (liver abscess, cellulitis, cervical abscess, chronic otitis media, breast abscess, pneumonia)	1,491	94	167	NT	NT	NT	NT	NT
4	Female	2Y	7Y	Severe combined immunodeficiency disorder	Recurrent infection, lymph node enlargement, cytomegalovirus infection	477 ↓	<5 ↓	25 ↓	4.3	88	7.1	50.6 (618)	33.8 (413)
5	Male	1M	3M	Severe cytomegalovirus hepatitis	Fever, pancytopenia, sepsis, urinary tract infection, cytomegalovirus infection	<18 ↓	<5 ↓	<5 ↓	89.8	3	5	1.5 (9)	2.1 (13)
6	Male	4Y	37Y	Bruton disease	Recurrent infection (meningitis, skin folliculitis), eczema, bronchiectasis	432↓	<5 ↓	<5 ↓	0	NT	NT	NT	NT
7	Male	1M	6M	Lymphoproliferative disease	Recurrent fever and infection (Pseudomonas sepsis and Clostridium perfringens acute gastroenteritis), splenomegaly	1,161	91	188	NT	38.6	NT	NT	NT
8	Male	1Y7M	1Y7M	Lymphoproliferative disease	Recurrent fever, bilateral lymph node enlargement, chronic active Epstein–Barr virus infection	927	290.7	256.4↑	NT	NT	NT	NT	NT
9	Female	20Y	22Y	Recurrent nontuberculous mycobacteria pulmonary infection	Recurrent fever and infection (pneumonia, acute pyelonephritis, latent tuberculosis, nontuberculous mycobacteria infection), hepatosplenomegaly	352 ↓	17.3 ↓	10.8 ↓	0	100	0	40.9 (117)	55.4 (158)
10	Female	3Y	3Y	Epstein–Barr virus infection	Chronic Epstein–Barr virus infection	NT	NT	NT	2.3	91.1	6.8	25.5 (584)	60.7 (1,391)
11	Male	1M	1M	Hemophagocytic lymphohistiocytosis	Fever, elevated liver enzymes and bilirubin, hepatosplenomegaly	381↓	6.6↓	14.4↓	6.5	84.6	8.6	0.2 (7)	0.6 (21)
12	Male	5M	5M	Pneumocystis jirovecii pneumonia	Pneumonia, recurrent otitis media	423↓	<5↓	26.3↓	99.1	0.7	0.5	NT	NT
13	Male	1M	1M	IL10RA deficiency	Recurrent perianal abscess	343↓	NT	NT	NT	NT	NT	27.4 (238)	43.3 (376)
14	Male	1Y6M	17Y	Bruton disease	Otitis media, sinusitis, Campylobacter infection	242↓	<5↓	<5↓	0.1	73.7	NT	43.7 (110)	51.0 (128)
15	Male	61Y	64Y	VEXAS syndrome	Recurrent mycobacterial infection, cytopenia	969	456.2↑	24.9↓	0.4	96.5	3	69.5 (4,731)	24.4 (1,661)

^*CD4- and CD8-positive T cell % is presented as number of each cell population/total lymphocyte count.

NT, not tested.