| IMMUNODEFICIENCY 47 |
C4310819 |
ATP6AP1
|
29396028, 27231034 |
| IMMUNODEFICIENCY 19 |
C3810147 |
CD3D
|
27807805, 25344390, 15546002, 23336327, 14602880, 22039266, 21926461, 24290291, 21883749 |
| IMMUNODEFICIENCY 18 |
C3810127 |
CD3E
|
8490660, 7937778, 15546002 |
| IMMUNODEFICIENCY 17 |
C3810107 |
CD3G
|
24910257, 17277165 |
| IMMUNODEFICIENCY 24 |
C4014617 |
CTPS1
|
24870241, 9536098, 27638562 |
| Immunodeficiency syndrome, variable |
C0398788 |
DNMT3B
|
10588719, 11741835, 17893117, 16543361, 23486536, 10647011, 11102980 |
|
HELLS
|
16395332 |
|
CDCA7
|
26216346 |
| IMMUNODEFICIENCY 40 |
C4225328 |
DOCK2
|
26083206, 29503648 |
| IMMUNODEFICIENCY 20 |
C3810342 |
FCGR3A
|
23006327, 8608639, 8609432, 8874200 |
| IMMUNODEFICIENCY 32A |
C3808589 |
IRF8
|
21524210, 22046141 |
| IMMUNODEFICIENCY 32B |
C4016741 |
IRF8
|
22046141, 25122610, 27893462, 21524210 |
| IMMUNODEFICIENCY 45 |
C4225252 |
IFNAR2
|
26424569 |
|
STAT2
|
23391734 |
| IMMUNODEFICIENCY 44 |
C4225260 |
IFNAR2
|
26424569 |
|
STAT2
|
28087227, 23391734, 26122121, 23143594 |
| IMMUNODEFICIENCY 27A |
C4011949 |
IFNGR1
|
20015550, 11139207, 25592983, 15589309, 9497247, 20186794, 17514500, 22708048, 19880337, 10811850, 12712974, 9389728, 28744922, 27868075, 16715106, 16195661 |
| IMMUNODEFICIENCY 27B |
C4014863 |
IFNGR1
|
9497247 |
| IMMUNODEFICIENCY 28 |
C4013947 |
IFNGR2
|
23963039, 10608793, 30264912, 22902943, 15924140 |
| IMMUNODEFICIENCY 15B |
C4747743 |
IKBKB
|
24369075, 25216719 |
| IMMUNODEFICIENCY 15A |
C4748694 |
IKBKB
|
30337470 |
| IMMUNODEFICIENCY 29 |
C4013948 |
IL12B
|
24127073 |
| IMMUNODEFICIENCY 30 |
C4013949 |
IL12RB1
|
12591909, 11424023, 21487897, 9603733, 21057261, 27141500 |
| IMMUNODEFICIENCY 39 |
C4225358 |
IRF7
|
25814066, 9315633 |
| IMMUNODEFICIENCY 22 |
C4014233 |
LCK
|
11351273, 22985903 |
| IMMUNODEFICIENCY 50 |
C4310812 |
MSN
|
27405666, 28378256, 29556235 |
| IMMUNODEFICIENCY 23 |
C4014371 |
PGM3
|
24931394, 24589341, 24698316, 25529582 |
|
DOP1A
|
|
| IMMUNODEFICIENCY 36 |
C4014934 |
PIK3R1
|
22351933, 23810379, 28632845, 25488983, 23980586, 23810382, 27766312, 26974159, 29556229, 23810378, 25133428, 24886349, 26529633, 25326637 |
| IMMUNODEFICIENCY 53 |
C4539811 |
RELB
|
26385063 |
| IMMUNODEFICIENCY 42 |
C4225266 |
RORC
|
26160376 |
| IMMUNODEFICIENCY 31B |
C3151088 |
STAT1
|
28258222, 22195034, 26604104, 21727188, 26242301, 23709754, 26938784, 26255980, 21714643, 25367169, 23541320, 22730530, 27114460, 27117246, 23403048, 23534974, 26494717, 26743090, 28597685, 29702748, 24343863, 12590259, 22847544, 20841510 |
|
CYP7B1
|
22174851 |
|
FRMPD1
|
25786224 |
|
BICRA
|
22174851 |
| IMMUNODEFICIENCY 31A |
C4013950 |
STAT1
|
16934001, 29702748, 11452125, 23541320, 26255980, 22195034, 28258222, 26604104, 22573496, 21714643, 23709754, 24343863, 28597685, 26494717, 21727188, 22847544, 26743090, 22730530, 27114460, 25367169, 26242301 |
| IMMUNODEFICIENCY 46 |
C4225219 |
TFRC
|
26642240 |
| IMMUNODEFICIENCY 16 |
C3810053 |
TNFRSF4
|
23897980 |
| IMMUNODEFICIENCY 57 |
C4748212 |
RIPK1
|
30026316 |
| IMMUNODEFICIENCY 37 |
C4015195 |
BCL10
|
25365219 |
| IMMUNODEFICIENCY 13 |
C3809768 |
UNC119
|
22184408 |
| IMMUNODEFICIENCY 55 |
C4693356 |
GINS1
|
28414293 |
| IMMUNODEFICIENCY 12 |
C3809583 |
MALT1
|
23727036, 24332264, 25627829 |
| IMMUNODEFICIENCY 8 |
C3809383 |
CORO1A
|
23522482, 19097825, 25073507 |
| IMMUNODEFICIENCY 51 |
C4310803 |
IL17RA
|
27930337 |
| IMMUNODEFICIENCY 52 |
C4479588 |
LAT
|
27242165, 27522155 |
| IMMUNODEFICIENCY 56 |
C3554687 |
IL21R
|
23440042, 12700598 |
| IMMUNODEFICIENCY 49 |
C4310656 |
BCL11B
|
29985992, 27959755 |
| IMMUNODEFICIENCY 11 |
C3554686 |
CARD11
|
23561803, 25352053, 23374270 |
| IMMUNODEFICIENCY 58 |
C4748304 |
CARMIL2
|
27896283, 27647349, 29226302, 29479355, 28112205 |
| Combined immunodeficiency due to OX40 deficiency |
431149 |
TNFRSF4
|
|
| Combined immunodeficiency due to TFRC deficiency |
476113 |
TFRC
|
|
| Immunodeficiency due to a late component of complement deficiency |
169150 |
C5
|
|
|
C6
|
|
|
C7
|
|
|
C8A
|
|
|
C8B
|
|
|
C8G
|
|
|
C9
|
|
| Immunodeficiency due to a classical component pathway complement deficiency |
169147 |
C2
|
|
|
C4A
|
|
|
C4B
|
|
|
C1QA
|
|
|
C1QB
|
|
|
C1QC
|
|
|
C1S
|
|
|
C1R
|
|
| Immunodeficiency due to CD25 deficiency |
169100 |
IL2RA
|
|
| Immunodeficiency due to Defect in CD3-Epsilon |
C1861284 |
CD3E
|
|
| Immunodeficiency due to Defect in CD3-Zeta |
C1857798 |
CD247
|
25688246 |
| Immunodeficiency due to Defect in MAPBP-Interacting Protein |
C1835829 |
LAMTOR2
|
28593997 |
| Immunodeficiency due to ficolin3 deficiency |
331190 |
FCN3
|
|
| Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency |
70592 |
IRAK4
|
|
| Immunodeficiency due to MASP-2 deficiency |
331187 |
MASP2
|
|
| IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES |
C4014833 |
PRKDC
|
19823081, 19075392, 23722905 |
| Severe T-cell immunodeficiency |
C4025208 |
STAT1
|
|
|
FOXN1
|
|
|
FRAS1
|
|
| Primary immunodeficiency syndrome due to p14 deficiency |
C4305256 |
LAMTOR2
|
28593997 |
| Combined immunodeficiency due to CD3gamma deficiency |
169082 |
CD3G
|
|
| Combined immunodeficiency due to IL21R deficiency |
357329 |
IL21R
|
|
| Combined immunodeficiency due to MALT1 deficiency |
397964 |
MALT1
|
|
| Combined immunodeficiency due to LRBA deficiency |
445018 |
LRBA
|
|
| Combined immunodeficiency due to Moesin deficiency |
504530 |
MSN
|
|
| Primary immune deficiency disorder |
C0398686 |
RAG1
|
12200379, 16960852, 10891502, 26457731, 19470080, 21131235, 22841008 |
|
RAG2
|
15025726, 22841008, 12200379, 26457731, 21624848, 11313270, 18463379, 16960852, 19470080, 10891502, 11133745, 21131235, 23243423 |
|
TCF3
|
29114388 |
|
RIPK1
|
30591564 |
| T-Lymphocytopenia, Idiopathic CD4-Positive |
C0206744 |
UNC119
|
|
| Tyrosine Kinase 2 Deficiency |
C1969086 |
TYK2
|
17088085, 17521577, 26304966, 22402565 |
