Chimerism, metabolic evaluation after HSCT, and ADA genotype
| UPN . | MNC . | Chimerism . | Metabolic evaluation after HSCT . | Neurologic symptoms . | Consanguinity . | ADA genotype and predicted effects on protein . | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| T cell . | B cell . | Monocytes . | Red cells, % donor . | ADA activity in red cells, μmol/mg protein . | dAXP in red cells, nmol/mL RBC . | |||||
| U466 | — | D | Dr | R | NA | 0.0 | 34 | No | Yes | c.164_172del9; p.Pro55_Thr57del; homo |
| U396 | — | D | dr | R | NA | 10 U/L (260-650) | — | Yes | Yes | c.302G>A; p.Arg101Gln; homo |
| U301 | — | D | Dr | dR | NA | 0 U/L (260-650) | — | Yes | Yes | c.955_959del5; p.Glu319fsX337; homo |
| U175 | — | D | Dr | R | 5 | 0.0 | 31 | No | No | c.424C>T; p.Arg142X; homo |
| U118 | — | D | —‡ | —‡ | 20 | 3.2 | 22 | No | No | c.[646G>A]+[911T>G]; p.[Gly216Arg]+[Leu304Arg] |
| M1052 | — | D | D | dr | 45 | 4.1 | 18 | Yes | No | c.[646G>A]+[955_959del5]; p.[Gly216Arg]+[Glu319fsX337] |
| M1053 | — | D | D | dr | 45 | 4.0 | 16 | Yes | No | c.[646G>A]+[955_959del5]; p.[Gly216Arg]+[Glu319fsX337] |
| U442 | D | — | — | — | 100 | 36.4 | 0 | No | No | c.[43C>G]+[466C>T]; p.[His15Asp]+[Arg156Cys] |
| U457† | — | — | — | — | — | — | — | — | No | c.385G>A;p.Val129Met; homo |
| U444 | D | — | — | — | 100 | 16.5 | 5 | No | Yes | c.736C>T; p.Gln246X; homo |
| U322† | — | — | — | — | — | — | — | — | Yes | c.295G>T; p.Glu99X; homo |
| U66† | — | — | — | — | — | — | — | — | No | Affected sister of U26 |
| U51 | D | — | — | — | 100 | 187 U/L (260-650) | — | Yes | No | — |
| U36 | D | — | — | — | 80 | 21.5 | 6 | No | No | c.646G>A; p.Gly216Arg; homo |
| U26 | D | — | — | — | 100 | 8.5 | 0 | Yes | No | c.646G>A; p.Gly216Arg; homo |
| Normal reference | — | — | — | — | — | 63 ± 41 unless indicated otherwise* | < 2 | — | — | — |
| UPN . | MNC . | Chimerism . | Metabolic evaluation after HSCT . | Neurologic symptoms . | Consanguinity . | ADA genotype and predicted effects on protein . | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| T cell . | B cell . | Monocytes . | Red cells, % donor . | ADA activity in red cells, μmol/mg protein . | dAXP in red cells, nmol/mL RBC . | |||||
| U466 | — | D | Dr | R | NA | 0.0 | 34 | No | Yes | c.164_172del9; p.Pro55_Thr57del; homo |
| U396 | — | D | dr | R | NA | 10 U/L (260-650) | — | Yes | Yes | c.302G>A; p.Arg101Gln; homo |
| U301 | — | D | Dr | dR | NA | 0 U/L (260-650) | — | Yes | Yes | c.955_959del5; p.Glu319fsX337; homo |
| U175 | — | D | Dr | R | 5 | 0.0 | 31 | No | No | c.424C>T; p.Arg142X; homo |
| U118 | — | D | —‡ | —‡ | 20 | 3.2 | 22 | No | No | c.[646G>A]+[911T>G]; p.[Gly216Arg]+[Leu304Arg] |
| M1052 | — | D | D | dr | 45 | 4.1 | 18 | Yes | No | c.[646G>A]+[955_959del5]; p.[Gly216Arg]+[Glu319fsX337] |
| M1053 | — | D | D | dr | 45 | 4.0 | 16 | Yes | No | c.[646G>A]+[955_959del5]; p.[Gly216Arg]+[Glu319fsX337] |
| U442 | D | — | — | — | 100 | 36.4 | 0 | No | No | c.[43C>G]+[466C>T]; p.[His15Asp]+[Arg156Cys] |
| U457† | — | — | — | — | — | — | — | — | No | c.385G>A;p.Val129Met; homo |
| U444 | D | — | — | — | 100 | 16.5 | 5 | No | Yes | c.736C>T; p.Gln246X; homo |
| U322† | — | — | — | — | — | — | — | — | Yes | c.295G>T; p.Glu99X; homo |
| U66† | — | — | — | — | — | — | — | — | No | Affected sister of U26 |
| U51 | D | — | — | — | 100 | 187 U/L (260-650) | — | Yes | No | — |
| U36 | D | — | — | — | 80 | 21.5 | 6 | No | No | c.646G>A; p.Gly216Arg; homo |
| U26 | D | — | — | — | 100 | 8.5 | 0 | Yes | No | c.646G>A; p.Gly216Arg; homo |
| Normal reference | — | — | — | — | — | 63 ± 41 unless indicated otherwise* | < 2 | — | — | — |
Capital letters in “chimerism” columns indicate dominant part of either donor or recipient.
D indicates donor; r, recipient; —, not determined; NA, not applicable (blood groups of donor and recipient identical in ABO and Rh).
ADA activity was measured in 2 different laboratories, results are given in μmol/mg protein (M. Hershfield, Durham, NC) or U/L red cells (University Children's Hospital Zurich, Switzerland).
Deceased.
Non–T-cell: mix.