Genetics and immunological features at diagnosis (N = 25)
| No/year of HCT . | Country of origin (ethnicity) . | Age at dx, mo . | Genetics . | Lymphocyte subset (cells/μL) at presentation/prior to HCT (abnormal result according to age-based reference range) . | DR expression (%) . | Ig (g/L) . | Autoantibodies* . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Lymp . | CD3 . | CD19 . | CD56 . | CD4 . | CD8 . | CD4/CD8 ratio . | Total naive T cells . | CD27+IgM−IgD− (%) . | T . | B . | M . | G . | A . | M . | |||||
| 1/1995 | England (Pakistan) | 4.9 | Homozygous CIITA mutation | 5 796 | 4 750 | 640 | 460 | 640 (↓) | 4 120 (↑) | 0.15 (↓) | ND | ND | 0 | 0 | 0 | 1.64 | 0.11 | 1.76 | ND |
| 2†/1997 | England (Pakistan) | At birth | Homozygous CIITA mutation | 4 200 | 1 905 | 368 (↓) | 368 | 500 (↓) | 1 395 | 0.35 (↓) | ND | ND | 0 | 0 | 0 | 6.16‡ | 0.02 | 0.18 | ND |
| 3/1997 | England (Bangladesh) | 4.0 | Homozygous CIITA mutation | 1 950 (↓) | 858 (↓) | 839 | 215 | 332 (↓) | 585 | 0.57 (↓) | ND | ND | 0 | 0 | 0 | 0.77 | <0.13 | 0.08 | ND |
| 4/2003 | England (Pakistan) | 4.7 | Homozygous RFX5 c.1198C>T (p.R400X) | 2 876 (↓) | 1 409 (↓) | 1167 | 252 | 249 (↓) | 1 109 | 0.22 (↓) | 73 | ND | 0 | 0 | 0 | 0.76 | <0.07 | 0.10 | ND |
| 5/2008 | Scotland | 8.4 | Compound heterozygous CIITA mutation c. 2582T>A (p.L861Q); c.2888+1G>A | 1 856 (↓) | 1 194 (↓) | 400 (↓) | 139 | 135 (↓) | 1 030 | 0.13 (↓) | ND | ND | 0 | 0 | 0 | 0 | 0 | 0 | ND |
| 6/2008 | England | 15.3 | Homozygous RFX5 c.1198G>T (p.E413X) | 20 838 (↑) | 17 780 (↑) | 2253 | 805 | 1259 | 14 434 (↑) | 0.09 (↓) | 711 | ND | 0 | 0 | 0 | 1.6 | <0.07 | <1.1 | ND |
| 7/2011 | England | 7.8 | Homozygous CIITA mutation§ c.3003C>G (p.D1001E) | 952 (↓) | 331 (↓) | 443 (↓) | 164 | 106 (↓) | 222 (↓) | 0.48 (↓) | 162 | <1 | 0 | 0 | 0 | 2.3 | 0.53 | 0.96 | ND |
| 8/2012 | Scotland (Pakistan) | 89.9 | Homozygous CIITA mutation c.1595T>C (p.532P) | 5 446 | 3851 | 956 | 611 | 519 (↓) | 3 203 (↑) | 0.16 (↓) | 616 | 4 | 0 | 0 | 0 | 14.9 | <0.04 | 1.30 | Negative |
| 9/2012 | Scotland (Pakistan) | 22.7 | Homozygous CIITA mutation c.1595T>C (p.L532P) | 8 066 | 4 478 | 3009 | 425 | 989 | 3 520 (↑) | 0.28 (↓) | 1165 | <1 | 0 | 0 | 0 | NA | NA | NA | Negative |
| 10/2015 | Saudi Arabia | 8.0 | Homozygous RFXANK mutation c.362A>T (p.D121V) | 2 842 (↓) | 1 402 | 1056 | 329 | 777 (↓) | 553 | 1.40 | 686 | 0 | 0 | 0 | 0 | <1.0 | 0 | 0 | ND |
| 11†2015 | Saudi Arabia | 6.0 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 2 988 (↓) | 1 059 | 1163 | 685 | 453 (↓) | 209 (↓) | 2.17 | ND | ND | 0 | 0 | 0 | 2.3 | 0 | 0 | ND |
| 12†/2015 | Saudi Arabia | 7.6 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 6 011 | 1 987 | 3563 | 382 | 1581 | 300 (↓) | 5.27 | 596 | 0 | 0 | 0 | 0 | <1.0 | 0.05 | 0.18 | ND |
| 13†/2015 | Saudi Arabia | 6.6 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 3 161 | 1 015 | 1621 | 436 | 695 (↓) | 209 | 3.32 | 233 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 14/2015 | Saudi Arabia | 6.4 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 3 361 | 1 474 | 1529 | 304 | 1097 | 277 | 3.96 | 575 | 0 | 0 | 0 | 0 | <3.2 | 0.43 | <0.25 | Negative |
| 15/2016 | Saudi Arabia | At birth | Homozygous RFXANK mutation§ c.477C>A (p.S159R) | 6 939 | 5 963 (↑) | 722 | 217 | 1077 | 4 009 (↑) | 0.27 (↓) | 358 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 16/2016 | Kuwait | At birth | Homozygous RFXANK mutation c.271+1G>C (IVS4+1G>c) | 5 679 | 4 327 | 939 | 311 | 3126 | 1 106 | 2.83 | 2652 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 17/2017 | Saudi Arabia | 17.0 | Homozygous RFXANK mutation c.362A>T (p.D121V) | 1 126 (↓) | 744 (↓) | 198 (↓) | 172 | 265 (↓) | 390 | 0.68 (↓) | ND | ND | 0 | 0 | 0 | NA | NA | NA | ND |
| 18/2017 | Saudi Arabia | 6.0 | Homozygous RFXANK mutation c.271+1G>C (IVS4+1G>c) | 1 004 (↓) | 755 (↓) | 123 (↓) | 106 | 374 (↓) | 445 | 0.84 (↓) | 8 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 19†/2017 | Saudi Arabia | 13.3 | Homozygous RFXANK mutation§ c.477C>A (p.S159R) | 1 928 (↓) | 1 555 | 323 | 32 (↓) | 378 (↓) | 648 | 0.58 (↓) | 218 | <1 | 0 | 0 | 0 | NA | NA | NA | ND |
| 20/2017 | Kuwait | 4.6 | Homozygous RFXANK mutation c.271+1delGinsTCAC | 2 615 (↓) | 1 551 (↓) | 797 | 227 | 849 (↓) | 530 | 1.60 | ND | ND | 0 | 0 | 0 | 0.66 | 0.07 | 0.3 | ND |
| 21†/2017 | Saudi Arabia | At birth | Homozygous RFXANK mutation§ c.477C>A (p.S159R) | 1 196 (↓) | 483 (↓) | 603 | 94 (↓) | 158 (↓) | 266 (↓) | 0.59 (↓) | ND | ND | 0 | 0 | 0 | NA | NA | NA | ND |
| 22/2017 | Saudi Arabia | 6 | Homozygous RFXANK mutation c.271+1G>TCAC (IVS4+1G>TCAC) | 1 761 (↓) | 1 372 | 365 | 12 (↓) | 509 (↓) | 684 | 0.74 (↓) | ND | ND | 0 | 0 | 0 | NA | NA | NA | ND |
| 23/2018 | Saudi Arabia | 6 | Homozygous RFXANK mutation c.362A>T (p.D121V) | 2 010 (↓) | 850 (↓) | 971 | 151 | 414 (↓) | 322 (↓) | 1.28 | 206 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 24/2018 | Saudi Arabia | 60 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 918 (↓) | 626 (↓) | 193 (↓) | 87 (↓) | 190 (↓) | 292 (↓) | 0.65 (↓) | ND | ND | 0 | 0 | 0 | 0.3 | 0.25 | 0.17 | ND |
| 25/2018 | Bulgaria | 6 | Homozygous RFXANK mutation p.R78*C>T | 4 246 | 2 287 | 1530 | 388 | 759 (↓) | 1 311 | 0.58 (↓) | 297 | ND | 0 | 0 | 0 | 3.8 | 0.08 | 0.26 | ND |
| No/year of HCT . | Country of origin (ethnicity) . | Age at dx, mo . | Genetics . | Lymphocyte subset (cells/μL) at presentation/prior to HCT (abnormal result according to age-based reference range) . | DR expression (%) . | Ig (g/L) . | Autoantibodies* . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Lymp . | CD3 . | CD19 . | CD56 . | CD4 . | CD8 . | CD4/CD8 ratio . | Total naive T cells . | CD27+IgM−IgD− (%) . | T . | B . | M . | G . | A . | M . | |||||
| 1/1995 | England (Pakistan) | 4.9 | Homozygous CIITA mutation | 5 796 | 4 750 | 640 | 460 | 640 (↓) | 4 120 (↑) | 0.15 (↓) | ND | ND | 0 | 0 | 0 | 1.64 | 0.11 | 1.76 | ND |
| 2†/1997 | England (Pakistan) | At birth | Homozygous CIITA mutation | 4 200 | 1 905 | 368 (↓) | 368 | 500 (↓) | 1 395 | 0.35 (↓) | ND | ND | 0 | 0 | 0 | 6.16‡ | 0.02 | 0.18 | ND |
| 3/1997 | England (Bangladesh) | 4.0 | Homozygous CIITA mutation | 1 950 (↓) | 858 (↓) | 839 | 215 | 332 (↓) | 585 | 0.57 (↓) | ND | ND | 0 | 0 | 0 | 0.77 | <0.13 | 0.08 | ND |
| 4/2003 | England (Pakistan) | 4.7 | Homozygous RFX5 c.1198C>T (p.R400X) | 2 876 (↓) | 1 409 (↓) | 1167 | 252 | 249 (↓) | 1 109 | 0.22 (↓) | 73 | ND | 0 | 0 | 0 | 0.76 | <0.07 | 0.10 | ND |
| 5/2008 | Scotland | 8.4 | Compound heterozygous CIITA mutation c. 2582T>A (p.L861Q); c.2888+1G>A | 1 856 (↓) | 1 194 (↓) | 400 (↓) | 139 | 135 (↓) | 1 030 | 0.13 (↓) | ND | ND | 0 | 0 | 0 | 0 | 0 | 0 | ND |
| 6/2008 | England | 15.3 | Homozygous RFX5 c.1198G>T (p.E413X) | 20 838 (↑) | 17 780 (↑) | 2253 | 805 | 1259 | 14 434 (↑) | 0.09 (↓) | 711 | ND | 0 | 0 | 0 | 1.6 | <0.07 | <1.1 | ND |
| 7/2011 | England | 7.8 | Homozygous CIITA mutation§ c.3003C>G (p.D1001E) | 952 (↓) | 331 (↓) | 443 (↓) | 164 | 106 (↓) | 222 (↓) | 0.48 (↓) | 162 | <1 | 0 | 0 | 0 | 2.3 | 0.53 | 0.96 | ND |
| 8/2012 | Scotland (Pakistan) | 89.9 | Homozygous CIITA mutation c.1595T>C (p.532P) | 5 446 | 3851 | 956 | 611 | 519 (↓) | 3 203 (↑) | 0.16 (↓) | 616 | 4 | 0 | 0 | 0 | 14.9 | <0.04 | 1.30 | Negative |
| 9/2012 | Scotland (Pakistan) | 22.7 | Homozygous CIITA mutation c.1595T>C (p.L532P) | 8 066 | 4 478 | 3009 | 425 | 989 | 3 520 (↑) | 0.28 (↓) | 1165 | <1 | 0 | 0 | 0 | NA | NA | NA | Negative |
| 10/2015 | Saudi Arabia | 8.0 | Homozygous RFXANK mutation c.362A>T (p.D121V) | 2 842 (↓) | 1 402 | 1056 | 329 | 777 (↓) | 553 | 1.40 | 686 | 0 | 0 | 0 | 0 | <1.0 | 0 | 0 | ND |
| 11†2015 | Saudi Arabia | 6.0 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 2 988 (↓) | 1 059 | 1163 | 685 | 453 (↓) | 209 (↓) | 2.17 | ND | ND | 0 | 0 | 0 | 2.3 | 0 | 0 | ND |
| 12†/2015 | Saudi Arabia | 7.6 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 6 011 | 1 987 | 3563 | 382 | 1581 | 300 (↓) | 5.27 | 596 | 0 | 0 | 0 | 0 | <1.0 | 0.05 | 0.18 | ND |
| 13†/2015 | Saudi Arabia | 6.6 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 3 161 | 1 015 | 1621 | 436 | 695 (↓) | 209 | 3.32 | 233 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 14/2015 | Saudi Arabia | 6.4 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 3 361 | 1 474 | 1529 | 304 | 1097 | 277 | 3.96 | 575 | 0 | 0 | 0 | 0 | <3.2 | 0.43 | <0.25 | Negative |
| 15/2016 | Saudi Arabia | At birth | Homozygous RFXANK mutation§ c.477C>A (p.S159R) | 6 939 | 5 963 (↑) | 722 | 217 | 1077 | 4 009 (↑) | 0.27 (↓) | 358 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 16/2016 | Kuwait | At birth | Homozygous RFXANK mutation c.271+1G>C (IVS4+1G>c) | 5 679 | 4 327 | 939 | 311 | 3126 | 1 106 | 2.83 | 2652 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 17/2017 | Saudi Arabia | 17.0 | Homozygous RFXANK mutation c.362A>T (p.D121V) | 1 126 (↓) | 744 (↓) | 198 (↓) | 172 | 265 (↓) | 390 | 0.68 (↓) | ND | ND | 0 | 0 | 0 | NA | NA | NA | ND |
| 18/2017 | Saudi Arabia | 6.0 | Homozygous RFXANK mutation c.271+1G>C (IVS4+1G>c) | 1 004 (↓) | 755 (↓) | 123 (↓) | 106 | 374 (↓) | 445 | 0.84 (↓) | 8 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 19†/2017 | Saudi Arabia | 13.3 | Homozygous RFXANK mutation§ c.477C>A (p.S159R) | 1 928 (↓) | 1 555 | 323 | 32 (↓) | 378 (↓) | 648 | 0.58 (↓) | 218 | <1 | 0 | 0 | 0 | NA | NA | NA | ND |
| 20/2017 | Kuwait | 4.6 | Homozygous RFXANK mutation c.271+1delGinsTCAC | 2 615 (↓) | 1 551 (↓) | 797 | 227 | 849 (↓) | 530 | 1.60 | ND | ND | 0 | 0 | 0 | 0.66 | 0.07 | 0.3 | ND |
| 21†/2017 | Saudi Arabia | At birth | Homozygous RFXANK mutation§ c.477C>A (p.S159R) | 1 196 (↓) | 483 (↓) | 603 | 94 (↓) | 158 (↓) | 266 (↓) | 0.59 (↓) | ND | ND | 0 | 0 | 0 | NA | NA | NA | ND |
| 22/2017 | Saudi Arabia | 6 | Homozygous RFXANK mutation c.271+1G>TCAC (IVS4+1G>TCAC) | 1 761 (↓) | 1 372 | 365 | 12 (↓) | 509 (↓) | 684 | 0.74 (↓) | ND | ND | 0 | 0 | 0 | NA | NA | NA | ND |
| 23/2018 | Saudi Arabia | 6 | Homozygous RFXANK mutation c.362A>T (p.D121V) | 2 010 (↓) | 850 (↓) | 971 | 151 | 414 (↓) | 322 (↓) | 1.28 | 206 | 0 | 0 | 0 | 0 | NA | NA | NA | ND |
| 24/2018 | Saudi Arabia | 60 | Homozygous RFAXNK mutation c.362A>T (p.R121V) | 918 (↓) | 626 (↓) | 193 (↓) | 87 (↓) | 190 (↓) | 292 (↓) | 0.65 (↓) | ND | ND | 0 | 0 | 0 | 0.3 | 0.25 | 0.17 | ND |
| 25/2018 | Bulgaria | 6 | Homozygous RFXANK mutation p.R78*C>T | 4 246 | 2 287 | 1530 | 388 | 759 (↓) | 1 311 | 0.58 (↓) | 297 | ND | 0 | 0 | 0 | 3.8 | 0.08 | 0.26 | ND |
B, B cells; dx, diagnosis; Lymp, lymphocytes; M, monocytes; NA, not available; ND, not done; T, T cells. ↑, higher than normal reference range for age; ↓, lower than normal referance range for age.
Autoantibodies: antinuclear antibody, double-stranded DNA, rheumatoid factor, antigastric parietal cell antibody, antimitochondrial antibody, antismooth muscle antibody, centromere antibody, tissue transglutaminase antibody, extractable nuclear antigen (ENA) nuclear ribonucleoprotein (RNP) anti-Smith antibody (Sm), anti-Ro antibody, anti-La antibody, Scl-70 antibody, Jo-1 antibody.
Siblings: 1 and 2; 12 and 13; 19 and 21.
IgG level was tested on day 12 of life (normal level due to maternal transplacental IgG transfer).
Novel variant.