Table 1.
Characteristic | Severe EBV Infectious Mononucleosis |
Chronic Active EBV Disease |
Hydroa Vacciniforme–like Lymphoma/HLH |
EBV-Positive Smooth Muscle Tumors |
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---|---|---|---|---|---|---|---|
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.