The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor

Table 2

Published reports of XLP1 cases with relative longevity (age >40 years).

Age at clinical onset (years)	Age at death or report (years)	Status at publication	Clinical manifestations (age in years)	IVIG	SH2D1A mutation (gene)	SAP mutation (protein)	SAP expression	Genetic reversion^#	Reference
49	51	Deceased	Clinical EBV (18); CNS vasculitis (49)	−	c.35 G > T	p.Ser12Ile	Premature degradation but functional	Unknown	Blackburn et al. [20]
59	65	Deceased	Diffuse large B-cell lymphoma (64)	−	c.35 G > T	p.Ser12Ile	Premature degradation but functional	Unknown	Blackburn et al. [20]
41	44	Alive	Cerebral B-cell lymphoma (41); Hypogammaglobulinemia (43)	+	c.462 C > T	p.Arg55X	Not done	Unknown	Hervier et al. [21]
17	45	Alive	Clinical EBV (17); Hypogammaglobulinemia (26)	+	c.259 T > C	p.Phe87Ser	Deficient	Yes	Palendira et al. [22]
10	49	Deceased	B-cell lymphoma (10); Clinical EBV (19); Hypogammaglobulinemia (19); Meningitis (19); Lymphoproliferation (40); HLH (49)	−	c.161 A > G	p.Tyr54Cys	Deficient	Yes	Palendira et al. [22]
20	52	Alive	Clinical EBV (20); Hypogammaglobulinemia (21)	+	c.259 T > C	p.Phe87Ser	Deficient	Yes	Palendira et al. [22]
6	44	Deceased	Lymphoid interstitial pneumonia (6); Clinical EBV (12); Hypogammaglobulinemia (12); CNS vasculitis (13, 43); Hodgkin lymphoma (44)	+	Deletion	No protein	No expression	No	This study

The two cases from Blackburn et al. [20] were brothers. Genetic reversion is defined as a secondary mutation that counteracts the effects of the primary mutation, thereby reversing the phenotype back to wild type.