Clinical presentation of TRAC-deficient patients
| . | This report . | Garkaby et al. (4) . | Morgan et al. (2) . | Rawat et al. (3) . | ||||
|---|---|---|---|---|---|---|---|---|
| Kindred A . | Kindred B . | Kindred C . | Kindred D . | Kindred E . | Kindred F . | |||
| P1 . | P2 . | P3 . | P4 . | P5 . | P6 . | P7 . | P8 . | |
| Mutation cDNA protein | c.192_205del, p.Trp65* | c.361C>T, p.Arg121* | c.347C>G, p.Ser116* | c.*+1G>A, p.Trp107Leufs56* | ||||
| TCRα deficiency | Complete | Complete | Complete | Partial | Partial | Partial | Partial | Partial |
| Clinical diagnosis | SCID | SCID | SCID? | CID | CID | CID | CID | CID |
| Age at onset | 20 days old | <1 mo old | - | 15 mo old | 6 mo old | 3 mo old | 6 mo old | <11 mo old |
| Clinical symptoms | Fever + myocarditis, BCG-osis, CMV infection | Chronic diarrhea, oral thrush, BCG-osis, pneumonia (Salmonella), failure to thrive | None, detection by newborn screening | Recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, and failure to thrive. Chronic course of varicella at age 6 as well as chronic EBV and human herpesvirus 6 viremia. Vitiligo and alopecia areata | Recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, and failure to thrive. Eczema and autoimmune hemolytic anemia. Pityriasis rubra pilaris | Recurrent respiratory tract infections, bronchiectasis, warts | Recurrent respiratory tract infections, bronchiectasis renal abscess, warts | Recurrent pneumonia, B cell lymphoma (EBV+) |
| Age at death or HSCT | HSCT at 22 mo | Death at 3 years old (pneumonia) | HSCT <1 year old | HSCT at 6 years old | HSCT at 7 years old | Death at 11 years old (severe pneumonia) | Death at 8 years old (pulmonary complications) | Death at 11 mo old |
| Outcome of HSCT | Successful | - | Successful | Successful | Successful | - | - | - |
| Other relevant information | None | Two siblings died of infection at 5 and 9 mo old, respectively | Sister died at 8 mo old with recurrent bacterial infections, oral thrush, diarrhea, and failure to thrive | None | None | None | None | None |
| . | This report . | Garkaby et al. (4) . | Morgan et al. (2) . | Rawat et al. (3) . | ||||
|---|---|---|---|---|---|---|---|---|
| Kindred A . | Kindred B . | Kindred C . | Kindred D . | Kindred E . | Kindred F . | |||
| P1 . | P2 . | P3 . | P4 . | P5 . | P6 . | P7 . | P8 . | |
| Mutation cDNA protein | c.192_205del, p.Trp65* | c.361C>T, p.Arg121* | c.347C>G, p.Ser116* | c.*+1G>A, p.Trp107Leufs56* | ||||
| TCRα deficiency | Complete | Complete | Complete | Partial | Partial | Partial | Partial | Partial |
| Clinical diagnosis | SCID | SCID | SCID? | CID | CID | CID | CID | CID |
| Age at onset | 20 days old | <1 mo old | - | 15 mo old | 6 mo old | 3 mo old | 6 mo old | <11 mo old |
| Clinical symptoms | Fever + myocarditis, BCG-osis, CMV infection | Chronic diarrhea, oral thrush, BCG-osis, pneumonia (Salmonella), failure to thrive | None, detection by newborn screening | Recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, and failure to thrive. Chronic course of varicella at age 6 as well as chronic EBV and human herpesvirus 6 viremia. Vitiligo and alopecia areata | Recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, and failure to thrive. Eczema and autoimmune hemolytic anemia. Pityriasis rubra pilaris | Recurrent respiratory tract infections, bronchiectasis, warts | Recurrent respiratory tract infections, bronchiectasis renal abscess, warts | Recurrent pneumonia, B cell lymphoma (EBV+) |
| Age at death or HSCT | HSCT at 22 mo | Death at 3 years old (pneumonia) | HSCT <1 year old | HSCT at 6 years old | HSCT at 7 years old | Death at 11 years old (severe pneumonia) | Death at 8 years old (pulmonary complications) | Death at 11 mo old |
| Outcome of HSCT | Successful | - | Successful | Successful | Successful | - | - | - |
| Other relevant information | None | Two siblings died of infection at 5 and 9 mo old, respectively | Sister died at 8 mo old with recurrent bacterial infections, oral thrush, diarrhea, and failure to thrive | None | None | None | None | None |