Table 1.

Patients With GATA2 Deficiency and Severe Primary Epstein-Barr Virus (EBV) Infection or EBV-Associated Cancers

Characteristic	Severe EBV Infectious Mononucleosis			Chronic Active EBV Disease	Hydroa Vacciniforme–like Lymphoma/HLH	EBV-Positive Smooth Muscle Tumors
	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
Race/sex	Hispanic/female	White/female	White/female	White/male	Asian/female	Hispanic/female	Asian/male
Age at onset of EBV disease, y	6	19	23	20	20	41	24
Age at death, y (cause of death)	Alive	Alive	Alive	22 (mycobacterial infection)	Alive	46 post-HSCT viral infection; Staphylococcus aureus bacteremia and candidemia; respiratory failure	Alive
Symptoms	Fever, lymphadenopathy, fatigue	Fever, fatigue, sore throat, lymphadenopathy, anorexia	Fever, fatigue, cervical lymphadenopathy, anorexia, streptococcal pharyngitis	Fever, fatigue, night sweats, lymphadenopathy	Blistering rash in sun-exposed areas, then fever, diffuse lymphadenopathy, necrotizing lesions in nonexposed areas	Fever, fatigue, dyspnea, weight loss	Fever, fatigue, anorexia, weight loss
Other infections and cancers	HSV stomatitis; MRSA cellulitis	HPV; HSV stomatitis; Salmonella enteritis; Neisseria meningiditis sepsis	HPV; HSV stomatitis	Mycobacterium abscessus	Enterococcus faecium bacteremia; Mycobacterium avium complex; histoplasmosis; EBV T-cell lymphoma of lung	HPV, M. avium complex, HSV esophagitis; chronic monomyelocytic leukemia	HPV, Mycobacterium szulgai, M. avium complex; recurrent bacterial pneumonia
EBV therapy	Corticosteroids	HSCT	HSCT	None	Corticosteroids, etoposide, alemtuzumab for HLH; HSCT	HSCT	HSCT
EBV-positive tissues	Bone marrow, lymph node	No biopsies	No biopsies	Lymph node, spleen	Skin, lung, small and large intestine, skeletal muscle, CSF	Orbital tissue, liver, colon, uterus	Liver
Peak EBV DNA in blood, copies/mL	44 000	20 600	8900	2770a	6.4 million	ND	3350
EBV type	1	ND	ND	ND	1	1	ND
EBV gene expression in blood	Positive for EBNA1 and BZLF1; negative for EBNA2, and LMP1	ND	ND	ND	Negative for EBNA1, BZLF1, EBNA2, and LMP1	BZLF1; negative for EBNA1, EBNA2, and LMP1	ND
IgG, mg/mL	1570b	3150	1940	966b	550b	610b	1090b
Cell count, cells/μL
Lymphocytes	1796b	280	290	499	170	402	340
Monocytes	29	0	20	6	30	0	0
CD3 T cells	1773b	272	289	198	247	396	339
CD4 T cells	257	182	192	288	49	124	175
CD8 T cells	964	70	86	277b	192b	234b	145
B cells (CD20)	2	1	2	1	2	2	1
NK cells CD3−CD16+	22	8	0	3	12	4	0
GATA2 mutation	c.1187G > A R396Q missense	c.988C > T R330X (stop) null	c.988C > T R330X (stop) null	c.1061C > T T354M missense	Unialleleic expression; heterozygous for genomic SNPs exon 2bp 55A > C and exon 3 c.15C > G, hemizygous by cDNA sequence	c.1192 C > T R398W missense	C.1186 C > T R396W missense
Patient No.	14.I.1 [8]	39.I.2 [8]	39.I.1 [8]	19.II.1 [8]	Patient 14 [16]	1.II.1 [8, 9]	42.I.1 [8, 14]

Abbreviations: cDNA, complementary DNA; CSF, cerebrospinanal fluid; EBV, Epstein-Barr virus; HLH, hemophagocytic lymphohistiocytosis; HPV, human papilloma virus; HSCT, hematopoietic stem cell transplant; HSV, herpes simplex virus; IgG, immunoglobulin G; MRSA, methicillin-resistant Staphylococcus aureus; ND, not determined; NK, natural killer; SNPs, single nucleotide polymorphisms.

^a Expressed in EBV DNA copies/10⁶ cells.

^b Values within normal range; all other laboratory values in these rows are abnormal.