Table 1 Phenotypic variability among... | American Society of Hematology

Table 1

Phenotypic variability among related males with SH2D1A or BIRC4 mutations treated at Cincinnati Children's Hospital Medical Center

	Mutation	Age at presentation	Major clinical phenotypes
*XLP1/SH2D1A* mutations**
Family 1	163 C → T (R55X)
Patient 1		2 y at diagnosis	Asymptomatic
Patient 2		2 y	Burkitt lymphoma, interstitial pneumonitis
Patient 3		6 y	Burkitt lymphoma, gastroenterocolitis
Family 2	195_196 insT (A66fsX67)
Patient 1		7 y	Interstitial pneumonitis, encephalitis
Patient 2		9 y	Large B-cell lymphoma
Family 3	346(+3) A → G
Patient 1		33 y	Near-fulminant adenovirus infection
Patient 2		33 y at diagnosis	Asymptomatic
*XLP2/BIRC4* mutations**
Family 1	563 G → A (G188E)
Patient 1		Infancy	HLH
Patient 2		4 y at diagnosis	Asymptomatic
Family 2	Del exons 1-5
Patient 1		Infancy	HLH
Patient 2		7 y	HLH

	Mutation	Age at presentation	Major clinical phenotypes
*XLP1/SH2D1A* mutations**
Family 1	163 C → T (R55X)
Patient 1		2 y at diagnosis	Asymptomatic
Patient 2		2 y	Burkitt lymphoma, interstitial pneumonitis
Patient 3		6 y	Burkitt lymphoma, gastroenterocolitis
Family 2	195_196 insT (A66fsX67)
Patient 1		7 y	Interstitial pneumonitis, encephalitis
Patient 2		9 y	Large B-cell lymphoma
Family 3	346(+3) A → G
Patient 1		33 y	Near-fulminant adenovirus infection
Patient 2		33 y at diagnosis	Asymptomatic
*XLP2/BIRC4* mutations**
Family 1	563 G → A (G188E)
Patient 1		Infancy	HLH
Patient 2		4 y at diagnosis	Asymptomatic
Family 2	Del exons 1-5
Patient 1		Infancy	HLH
Patient 2		7 y	HLH