| Combined immunodeficiency |
C0494261 |
ACP5
|
|
|
AK2
|
|
|
RHOH
|
24189071 |
|
BUB1B
|
|
|
CD3G
|
17277165 |
|
CD27
|
25843314 |
|
CD70
|
29434583 |
|
CTLA4
|
25329329 |
|
IKBKB
|
25216719 |
|
IL2RA
|
24116927 |
|
IL2RG
|
|
|
ITK
|
21109689 |
|
LCK
|
11351273 |
|
LIG4
|
|
|
MSN
|
29556235 |
|
MYH7
|
|
|
MYOC
|
|
|
PNP
|
|
|
PGM3
|
24931394 |
|
PIK3CD
|
24136356 |
|
PIK3R1
|
25488983 |
|
PRKDC
|
25842288 |
|
RAC2
|
|
|
RAG1
|
|
|
RAG2
|
|
|
RFX5
|
9401005 |
|
STAT1
|
29702748 |
|
STAT5A
|
16418296 |
|
STAT5B
|
26703237 |
|
STIM1
|
26560041 |
|
STK4
|
24453252 |
|
TFRC
|
26642240 |
|
TNFRSF4
|
|
|
ZAP70
|
|
|
UNC119
|
22184408 |
|
PLAA
|
|
|
RECQL4
|
16630167 |
|
MALT1
|
25627829 |
|
CORO1A
|
19097825 |
|
TRAC
|
3464003 |
|
ICOS
|
29226301 |
|
IL21R
|
12700598 |
|
ADA2
|
29564582 |
|
TTC7A
|
24417819 |
|
DCLRE1C
|
|
|
BCL11B
|
27959755 |
|
NHEJ1
|
|
|
DOCK8
|
25724123 |
|
MAGT1
|
21983175 |
|
CARD11
|
25352053 |
|
ORAI1
|
20004786 |
|
CARMIL2
|
28112205 |
|
MYOCOS
|
|
| Severe Combined Immunodeficiency |
C0085110 |
ADA
|
26255240, 27604308, 19179314, 21664875, 22447032, 9758612 |
|
AK2
|
19043416, 19043417 |
|
CD3D
|
15546002 |
|
CD3E
|
7937778, 15546002, 1828760, 1370449, 24515816, 8490660 |
|
CD247
|
25688246 |
|
IL2RG
|
|
|
IL7R
|
|
|
JAK3
|
15220007, 15661026, 18559588 |
|
LIG4
|
27537055 |
|
MTHFD1
|
|
|
MYH7
|
|
|
MYOC
|
|
|
PGM3
|
|
|
PRKDC
|
25842288 |
|
PTPRC
|
22689986 |
|
RAC2
|
|
|
RAG1
|
18768869, 11213808, 20956421, 18463379, 11971977, 27484032, 17572155, 25869295 |
|
RAG2
|
18463379, 17572155, 20956421, 11213808, 27484032, 18768869, 25869295, 11971977 |
|
RMRP
|
|
|
TBX1
|
11242110 |
|
TCN2
|
19373259 |
|
TFRC
|
26642240 |
|
XRCC4
|
|
|
ZAP70
|
27288531, 8202713 |
|
PKIG
|
19179314 |
|
CORO1A
|
19097825 |
|
IL21R
|
12700598 |
|
CHD7
|
|
|
TTC7A
|
|
|
DCLRE1C
|
|
|
BCL11B
|
|
|
MYOCOS
|
|
| Severe combined immunodeficiency due to adenosine deaminase deficiency |
C0392607, 277 |
ADA
|
|
|
PKIG
|
|
| Severe combined immunodeficiency due to CTPS1 deficiency |
C4706524, 420573 |
CTPS1
|
9536098 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive |
C1832322 |
JAK3
|
|
|
RAG1
|
10701853, 8810255, 9630231, 11133745, 18822103, 19458910, 25516070, 18056378, 19064334, 11313270, 18701881, 18442948, 20489056, 21131235, 24290284, 19830075, 19912631, 17572155, 17075247 |
|
RAG2
|
11313270, 21624848, 8810255, 11133745, 18442948, 25707801, 23243423, 19458910, 15025726, 16960852, 18033247, 16111638, 24290284, 26692406, 17572155, 26186701, 18701881, 10891502 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative |
C1833275 |
JAK3
|
10982185, 7481768, 14615376, 7659163, 9354668, 9753072 |
| Severe combined immunodeficiency, atypical |
C1849236 |
ZAP70
|
|
| SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE |
C1865371 |
DCLRE1C
|
|
| Athabaskan severe combined immunodeficiency |
C1865372 |
DCLRE1C
|
12055248 |
| SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL |
C1865373 |
DCLRE1C
|
|
| T-B+ severe combined immunodeficiency due to gamma chain deficiency |
276 |
IL2RG
|
|
| Severe combined immunodeficiency due to FOXN1 deficiency |
169095 |
FOXN1
|
|
| T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta |
169160 |
CD3D
|
|
|
CD3E
|
|
|
CD247
|
|
| Severe combined immunodeficiency due to DCLRE1C deficiency |
275 |
DCLRE1C
|
|
| Severe combined immunodeficiency due to LCK deficiency |
280142 |
LCK
|
|
| Combined immunodeficiency due to ZAP70 deficiency |
911 |
ZAP70
|
|
| Severe combined immunodeficiency due to CORO1A deficiency |
228003 |
CORO1A
|
|
| Severe combined immunodeficiency due to complete RAG1/2 deficiency |
331206 |
RAG1
|
|
|
RAG2
|
|
| Combined immunodeficiency due to ORAI1 deficiency |
317428 |
ORAI1
|
|
| Combined immunodeficiency due to STIM1 deficiency |
317430 |
STIM1
|
|
| Severe combined immunodeficiency due to CARD11 deficiency |
357237 |
CARD11
|
|
| Severe combined immunodeficiency due to IKK2 deficiency |
397787 |
IKBKB
|
|
| Severe combined immunodeficiency due to LAT deficiency |
504523 |
LAT
|
|
| Combined immunodeficiency due to GINS1 deficiency |
505227 |
GINS1
|
|
| T-B+ severe combined immunodeficiency due to JAK3 deficiency |
35078 |
JAK3
|
|
| Severe combined immunodeficiency due to CARMIL2 deficiency |
542301 |
CARMIL2
|
|
| SCID Due to ADA Deficiency, Early-Onset |
C1863236 |
ADA
|
23260757, 17185467, 6208479, 28266921, 2773932, 8051429, 2783588, 19179314, 8299233, 1346349, 9414266, 25525159, 1284479, 21664875, 25875700, 1974554, 8673127, 8227344, 2166947, 9758612, 3182793, 8401541, 9108404, 10200056, 19665771, 20544538, 26255240, 8178821, 7599635, 1680289, 9361033, 26376800, 27095930, 7554472, 11313286, 3475710, 22764473, 8614422, 11160213, 18952502, 27129325, 21624848, 2758612, 9806422, 9225964, 25954555, 14499267, 8258146, 22447032, 16276484, 16825284, 8589684, 3839802, 22968453 |
|
PKIG
|
26255240, 9758612, 1284479, 17185467, 9414266, 3475710, 23260757, 26376800, 16276484, 1346349, 19179314, 1680289, 21624848, 20544538, 8401541, 2773932, 9361033, 8258146, 9108404, 1974554, 28266921, 8614422, 3182793, 11313286, 2166947, 27095930, 7554472, 14499267, 11160213, 27129325, 8051429 |
