Case Report
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 |
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