Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?

Table 2

Sequencing results of heterozygous PID-related variants affecting the FASL, PRF1, BLM, and MSN genes.

Gene	Consequence	Transcript	Exon	cDNA_Pos	Cds_Pos	AA	Protein_Pos	Nomenclature	PolyPhen	SIFT	CADD
FASL	Missense	ENST00000367721_1	4	683	499	G/R	167	c.499G>A	Probably damaging (score: 1)	Deleterious (score: 0)	27.5
PRF1	Missense	ENST00000441259_10	2	324	163	R/C	55	c.163C>T	Probably damaging (score: 0.959)	Deleterious (score: 0)	26.6
BLM	Missense	ENST00000355112_15	2	161	43	R/C	15	c.43C>T	Probably damaging (score: 0.939)	Deleterious (score: 0.02)	34
MSN	Missense	ENST00000360270_X	4	536	364	A/T	122	c.364G>A	Possibly damaging (score: 0.718)	Benign (score: 0.09)	25.6