TABLE I.

Clinical Characteristics of Five Patients With XLP

Patient	Initial diagnosis	Treatment	Outcome	SH2D1A mutation	Relapse diagnosis	Treatment	Outcome	XLP sibling (yes/no)	Diagnosis
1	DLBCL (EBNA–)	CHOP 6MP/MTX	CR for 4 years	Gene deletion	DLBCL	CHOP, 6MP/MTX, and HLA-matched sibling HSCT	CCR 14 years	No	n/a
2	BL	Total B	CR for 11 years	Exon 1 deletion	FIM	Supportive, rituximab, and haploHSCT	Expired: liver failure EBV in CNS	Probable	NHL
3	BL	LMB89	CR for 4 years	A to G −2 splice acceptor site for intron 1	BL	LMB89 and haploHSCT	Expired post HSCT, respiratory failure	Yes	n/a
4	DLBCL (EBER–)	LMB89	CR for 3 years	G to A in codon 64 (Trp64stop)	DLBCL (EBER–)	LMB89 and unrelated donorHSCT	Expired post HSCT, pneumonitis	No	n/a
5	BL (EBER–)	LMB-89	CR for 6 years	Gene deletion	BL	LMB96 and unrelated donorHSCT	CCR 1 year post HSCT	No	n/a

The histological diagnoses included non-Hodgkin lymphoma (NHL), Burkitt lymphoma (BL), DLBCL, and fatal infectious monomucleosis (FIM): in some cases this result was not applicable (n/a).

The responses to therapy included complete response (CR) and continuous complete remission (CCR). Chemotherapy included 6-MP (6-mercaptopurine) and cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP). EBV studies included Epstein–Barr virus-encoded small RNA (EBER) and Epstein–Barr nuclear antigen (EBNA).