Table 1. Patients’ characteristics... | Rockefeller University Press

Table 1.

Patients’ characteristics

Patient	SH2D1A variant	XLP symptoms aside from LPD	Age of onset of LPD	Site of involvement in LPD	Surface antigens of infiltrating lymphocytes	EBER positivity in tissue	Pathological diagnosis	Tumor sample type
P1	c.208_209insC p.P70fs*4	HLH	5/18 years	Right frontal lobe and cerebellum	CD20⁺	Positive	DLBCL	Biopsy
P2	Exon 1 deletion	Recurrent otitis media and pneumonia	5 years	Left cervical lymph nodes	CD20⁺, CD10⁻, Bcl6⁺, and MUM1⁺	Positive	LPD (borderline malignancy)	Biopsy
P3	c.162C>A p.Y54X	None	8 years	Liver, intra-abdominal lymph nodes, and subcutaneous nodules	CD3⁺ and CD20⁺	Negative	LPD	Biopsy
P4	Exon 3–4 deletion	Recurrent sinusitis	9 years	Left cervical lymph nodes, lung, liver, and mediastinum lymph nodes	CD20⁺	Positive	DLBCL	FFPE
P5	c.162_201+31delinsTACAAGGACATA	Recurrent pneumonia	5 years	Left cervical lymph nodes and mediastinum lymph nodes	CD30⁺	Positive	Hodgkin lymphoma	FFPE
P6	c.128T>C p.L43P	None	6 years	Right cervical lymph node	CD20⁺, CD10⁺, Bcl6⁺, and MUM1⁺	Negative	DLBCL	Biopsy

Patient	SH2D1A variant	XLP symptoms aside from LPD	Age of onset of LPD	Site of involvement in LPD	Surface antigens of infiltrating lymphocytes	EBER positivity in tissue	Pathological diagnosis	Tumor sample type
P1	c.208_209insC p.P70fs*4	HLH	5/18 years	Right frontal lobe and cerebellum	CD20⁺	Positive	DLBCL	Biopsy
P2	Exon 1 deletion	Recurrent otitis media and pneumonia	5 years	Left cervical lymph nodes	CD20⁺, CD10⁻, Bcl6⁺, and MUM1⁺	Positive	LPD (borderline malignancy)	Biopsy
P3	c.162C>A p.Y54X	None	8 years	Liver, intra-abdominal lymph nodes, and subcutaneous nodules	CD3⁺ and CD20⁺	Negative	LPD	Biopsy
P4	Exon 3–4 deletion	Recurrent sinusitis	9 years	Left cervical lymph nodes, lung, liver, and mediastinum lymph nodes	CD20⁺	Positive	DLBCL	FFPE
P5	c.162_201+31delinsTACAAGGACATA	Recurrent pneumonia	5 years	Left cervical lymph nodes and mediastinum lymph nodes	CD30⁺	Positive	Hodgkin lymphoma	FFPE
P6	c.128T>C p.L43P	None	6 years	Right cervical lymph node	CD20⁺, CD10⁺, Bcl6⁺, and MUM1⁺	Negative	DLBCL	Biopsy