Bronchiectasis
Basic details
Preferred term: Bronchiectasis
Alt. terms: Permanent enlargement lung airways enlargement
HPO term: Bronchiectasis
HPO code: HP:0002110
GenIA ID: 268
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: C84475
MESH: D001987
EFO: -
OAE: -
SNOMEDCT: -
ICD10: J47
Description
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Hierarchical classification
Reported patients added to GenIA DB
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101017 | F | 210232 | 34,34 | German | Bronchiectasis,obstructive lung disease | PMID:34975878 [Fam.F003:P003] | |
| 101053 | F | 211287 | 31 | Bronchiectasis | PMID:34975878 [Fam.F022:P022] | ||
| 101058 | M | 210120 | - | Bronchiectasis | Immunodeficiency 31C | PMID:34390440 [CMC21] | |
| 101076 | F | 210226 | 23 | German | Bronchiectasis | PMID:34975878 [Fam.F041:P041] | |
| 101077 | F | 210211 | 15 | German | Bronchiectasis | PMID:34975878 [Fam.F043:P043] | |
| 101081 | F | 211315 | 34 | Bronchiectasis | PMID:34975878 [Fam.F047:P047] | ||
| 101084 | F | 211225 | 5 | Bronchiectasis | PMID:34975878 [Fam.F050:P050] | ||
| 101085 | F | 210196 | 36 | Bronchiectasis | PMID:34975878 [Fam.F051:P051] | ||
| 101087 | M | 211335 | 36 | German | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
| 101093 | M | 211289 | 52 | German | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
| 101095 | M | 210286 | 4 | Bronchiectasis | PMID:34975878 [Fam.F060:P060] | ||
| 101104 | F | 211429 | 16 | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:34975878 [Fam.F397:P397] | |
| 101116 | M | 210282 |
38 | German | Bronchiectasis | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.A:II.2(P2)]; PMID:16384931 [Fam.A:II.3(P2)]; PMID:19426217 [Fam.A:II.2(P2)]; PMID:28861081 [Fam.1:II.2(P2)]; PMID:35486341 [P005] |
| 101120 | M | 210221 | 59 | German | Bronchiectasis | PMID:34975878 [Fam.F071:P071] | |
| 101121 | M | 210784 | 49 | German | Bronchiectasis | PMID:34975878 [Fam.F072:P072] | |
| 101124 | F | 210216 | 58 | German | Bronchiectasis | PMID:34975878 [Fam.F075:P075] | |
| 101127 | F | 210318 | 42 | German | Bronchiectasis | PMID:34975878 [Fam.F077:P077] | |
| 101128 | M | 210897 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
| 101145 | M | 211221 |
31 | German | Bronchiectasis | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)] |
| 101153 | M | 210757 | - | German | Bronchiectasis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
| 101177 | F | 212111 | - | Bronchiectasis | PMID:34975878 [Fam.F407:P407] | ||
| 101202 | F | 211487 | - | Bronchiectasis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:III.1(P124)]; PMID:30941118 [Fam.1404:III.1(Pt#23)] | |
| 101235 | M | 210135 | 6 | Arab | Bronchiectasis | PMID:22608502 [Fam.A:I.1] | |
| 101260 | M | 212144 | 7,7 | Iranian | Bronchiectasis,obstructive lung disease | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
| 101268 | F | 212145 | - | Iranian | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
| 101286 | F | 212146 | - | Saudi | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.3]; PMID:25468195 [Fam.C:II.3(P4)]; PMID:26707784 [P8] |
| 101296 | M | 210135 | 6 | Arab | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1] |
| 101343 | M | 210134 | - | Italian | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
| 101356 | F | 210135 | - | Arab | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2] |
| 101368 | F | 210392 | - | German | Bronchiectasis | Agammaglobulinemia 9 | PMID:34975878 [Fam.F132:P132] |
| 101369 | M | 212161 | - | Turkish | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:30479781 [P1(V.1)] |
| 101375 | F | 212162 | - | Iranian | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8] |
| 101379 | M | 212163 | - | Iranian | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
| 101388 | M | 212165 | 14 | Palestinian | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.1:P1]; PMID:26707784 [P20] |
| 101401 | F | 210205 |
- | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)] |
| 101402 | M | 210690 | - | German | Bronchiectasis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F138:P138] |
| 101421 | F | 212170 | 7 | Iranian | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
| 101424 | M | 212172 | 8 | Iranian | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13] |
| 101433 | M | 210233 | 22 | German | Bronchiectasis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F143:P143] |
| 101458 | F | 210656 |
- | Georgian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)] |
| 101473 | F | 212398 | 4 | Spanish | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
| 101479 | F | 210314 |
- | German | Bronchiectasis | NFKB1 insufficiency | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
| 101488 | M | 210401 |
- | German | Bronchiectasis | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
| 101490 | M | 211009 | - | Bronchiectasis | PMID:34975878 [Fam.F164:P164] | ||
| 101495 | M | 212458 | - | Taiwanese | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
| 101501 | F | 212459 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:II.2(P4)] |
| 101509 | F | 212459 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.2(P1)] |
| 101511 | M | 212459 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
| 101512 | M | 212459 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
| 101530 | M | 212460 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
| 101532 | F | 212460 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
| 101534 | M | 212460 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.1(P11)] |
| 101538 | F | 212460 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
| 101548 | M | 212462 | - | Irish | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:III.1(P9)] |
| 101549 | F | 212463 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
| 101551 | M | 212463 | - | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:II.1(P12)] |
| 101553 | M | 210256 | 12 | German | Bronchiectasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
| 101563 | M | 212465 | - | French | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.4(P17)] |
| 101572 | M | 212598 | - | Turkish | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES46] |
| 101577 | M | 212600 | - | Bronchiectasis | Immunodeficiency 31C | PMID:34390440 [CMC12] | |
| 101578 | M | 210205 |
- | German | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
| 101592 | M | 212605 |
- | Moroccan | Bronchiectasis | ARPC1B deficiency | PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient] |
| 101624 | M | 210946 | - | Bronchiectasis | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F215:P215] | |
| 101633 | M | 210945 | 9 | Bronchiectasis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)] | |
| 101635 | F | 211154 | - | German | Bronchiectasis | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
| 101651 | M | 210939 | 28 | Bronchiectasis | PMID:34975878 [Fam.F226:P226] | ||
| 101693 | M | 212637 |
- | Nepalese | Bronchiectasis | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
| 101722 | F | 210261 |
- | Asian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)] |
| 101744 | F | 210182 |
- | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)] |
| 101755 | M | 210025 | 12 | North American | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
| 101792 | M | 210991 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
| 101795 | M | 211075 | - | Bronchiectasis | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.981:II.5(Pt#28)] | |
| 101799 | M | 211120 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
| 101826 | F | 211561 | 39 | German | Bronchiectasis | PMID:34975878 [Fam.F290:P290] | |
| 101833 | M | 210887 | - | Bronchiectasis | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
| 101840 | F | 211591 | - | Bronchiectasis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
| 101880 | M | 212295 | - | Bronchiectasis | PMID:34390440 [NEG047] | ||
| 101884 | M | 212237 |
- | Sudanese | Bronchiectasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
| 101892 | F | 212241 | - | Bronchiectasis | PMID:34390440 [NEG048] | ||
| 101898 | F | 212307 | - | Bronchiectasis | PMID:34390440 [NEG052] | ||
| 101915 | F | 211935 | - | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
| 101958 | F | 212666 | - | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES40] | |
| 101961 | M | 212237 |
- | Sudanese | Bronchiectasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
| 101962 | M | 212237 |
- | Sudanese | Bronchiectasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
| 101975 | F | 214053 |
- | Turkish | Bronchiectasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
| 101982 | F | 214072 | - | Omani | Bronchiectasis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES06] |
| 101992 | F | 214128 | - | Bronchiectasis | PMID:34390440 [NEG098] | ||
| 101993 | F | 214132 | - | Bronchiectasis | PMID:34390440 [NEG099] | ||
| 102014 | F | 214191 | - | Bronchiectasis | PMID:34390440 [NEG116] | ||
| 102034 | M | 214227 | - | Bronchiectasis | PMID:34390440 [NEG133] | ||
| 102081 | M | 214301 | - | Egyptian | Bronchiectasis | PMID:34390440 [NEG167] | |
| 102222 | M | 214917 | 53,62 | German | Bronchiectasis,obstructive lung disease | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
| 102223 | F | 214918 | 50 | German | Bronchiectasis | Familial autoinflammatory Behcet-like syndrome | PMID:35486341 [P191] |
| 102260 | F | 214926 |
- | Mexican | Bronchiectasis | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
| 102410 | F | 214947 |
1 | South Asian | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4B | PMID:28747427 [Fam.A:II.3(P1)] |
| 102427 | M | 214950 |
4 | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
| 102439 | M | 214956 |
- | Bulgarian | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
| 102444 | M | 214957 |
- | Slovak | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
| 102449 | F | 214958 |
- | Mexican/Salvadoran | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
| 102460 | M | 214960 |
- | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.G:II.1(P11)] |
| 102463 | M | 214961 |
- | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.H:II.1(P12)] |
| 102509 | M | 214948 |
- | Irish Traveller | Bronchiectasis | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
| 102660 | M | 214979 |
- | Moroccan | Bronchiectasis | Immunodeficiency 8 | PMID:23522482 [Fam.P3:V.1(P1)] |
| 102729 | M | 214981 |
- | Canadian | obstructive lung disease | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)] |
| 102775 | F | 214986 |
- | Afro-Caribbean | Bronchiectasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.B:II.5(P4)] |
| 102786 | F | 214988 |
- | Turkish | Bronchiectasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
| 102803 | F | 214991 |
10 | North American | Bronchiectasis | Immunodeficiency 8 | PMID:25073507 [P1(II.2)] |
| 102804 | M | 214991 |
8 | North American | Bronchiectasis | Immunodeficiency 8 | PMID:25073507 [Fam.P1:II.1(P2)] |
| 102984 | F | 215074 |
9 | European/American | obstructive lung disease | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
| 103021 | F | 215086 |
- | Gypsy | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.1:II.2(C1)] |
| 103044 | M | 215094 | - | Swedish | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.9:SW] |
| 103116 | F | 215101 |
- | Saudi | Bronchiectasis | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [P1(IV.4)] |
| 103152 | F | 215104 |
9 | Omani | Bronchiectasis | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC2500:IV.9(MC2501)] |
| 103473 | F | 215134 |
- | French | Bronchiectasis | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
| 103626 | F | 215175 |
- | Caucasian | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)] |
| 103656 | M | 215184 |
- | Caucasian | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:I.1(Proband)]; PMID:21288777 [Fam.9:I.1(proband)] |
| 103716 | M | 215229 | - | Caucasian | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J013:Proband]; PMID:21288777 [F384L] |
| 103880 | F | 215269 |
12 | Finnish | Bronchiectasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
| 103914 | F | 215270 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
| 103916 | M | 215271 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
| 103917 | F | 215272 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
| 103918 | M | 215272 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
| 103921 | F | 215273 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K4:P5] |
| 103922 | F | 215274 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
| 103923 | M | 215275 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
| 103926 | F | 215276 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
| 103927 | F | 215277 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
| 103928 | M | 215278 | - | Algerian | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
| 103930 | F | 215280 | - | Moroccan | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
| 103931 | M | 215281 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
| 103933 | F | 215281 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:I.2(P14)] |
| 103935 | F | 215282 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
| 103936 | M | 215283 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K14:P18] |
| 103937 | F | 215284 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
| 103939 | F | 215286 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
| 103940 | F | 215287 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
| 103945 | M | 215289 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K19:P24] |
| 103947 | F | 215291 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K21:P26] |
| 103951 | M | 215293 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:I.2(P28)] |
| 103953 | F | 215294 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
| 103955 | F | 215296 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K26:P33] |
| 103958 | M | 215298 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
| 103965 | F | 215301 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
| 103966 | F | 215302 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K32:P40] |
| 103968 | F | 215304 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K34:P42] |
| 103969 | F | 215305 |
- | Pakistani | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
| 103971 | F | 215305 |
- | Pakistani | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
| 103972 | M | 215305 |
- | Pakistani | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
| 103973 | M | 215306 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K36:P46] |
| 103974 | M | 215307 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
| 103977 | F | 215308 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
| 103978 | M | 215309 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
| 103980 | F | 215311 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
| 103982 | F | 215313 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
| 103984 | M | 215315 | - | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K45:P56] |
| 103985 | M | 215316 | - | Portuguese | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
| 104055 | F | 215331 | - | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN7]; PMID:18835223 [UPN7]; GRID:000796 [UPN7] |
| 104058 | F | 215334 | - | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN17]; PMID:18835223 [UPN17]; GRID:000796 [UPN17] |
| 104060 | M | 215336 | - | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN15]; PMID:18835223 [UPN15]; GRID:000796 [UPN15] |
| 104061 | M | 215337 |
- | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN19]; PMID:18835223 [UPN19]; GRID:000796 [UPN19(II.1)] |
| 104085 | F | 215361 | - | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN6]; PMID:18835223 [UPN6]; GRID:000796 [UPN6] |
| 104091 | F | 215367 |
- | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN2]; PMID:18835223 [UPN2]; GRID:000796 [UPN2(II.4)] |
| 104096 | M | 215372 | - | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN5]; PMID:18835223 [UPN5]; GRID:000796 [UPN5] |
| 104097 | M | 215373 | - | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN71]; PMID:18835223 [UPN71]; GRID:000796 [UPN71] |
| 104098 | F | 215374 | - | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN16]; PMID:18835223 [UPN16]; GRID:000796 [UPN16] |
| 104113 | M | 215389 | - | European | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN18]; PMID:18835223 [UPN18]; GRID:000796 [UPN18] |
| 104148 | M | 215392 |
- | Syrian | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.A:III.5(P1)] |
| 104158 | M | 215393 |
- | Australian | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
| 104177 | M | 215396 |
- | Maori | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.E:I.1(P6)] |
| 104252 | F | 215428 | - | North American | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P17]; PMID:21288777 [S668F] |
| 104268 | M | 215444 |
-,- | Ashkenazi Jewish | Bronchiectasis,obstructive lung disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
| 104333 | F | 215472 | - | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [G618D]; PMID:23584561 [T2-5] | |
| 104349 | M | 215488 | - | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [del371-380]; PMID:23584561 [T3-14] | |
| 104383 | M | 215517 |
- | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:II.1(proband)] | |
| 104385 | F | 215517 |
- | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:I.2(mother)] | |
| 104453 | F | 215530 |
22 | European | Bronchiectasis | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
| 104492 | F | 215536 |
1 | Caucasian | obstructive lung disease | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.4(P16)] |
| 104787 | M | 215573 |
40 | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
| 104838 | M | 215578 |
14 | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
| 104845 | F | 215579 |
- | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
| 104957 | M | 215622 |
- | Dutch | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.20(II.20)]; PMID:26279205 [Fam.NL1:II.23(21)]; PMID:29403474 [Fam.NL1 (5):II.23(21)]; PMID:11583829 [Fam.1:II.23(II:23)]; PMID:16639407 [Fam.1:II.23(21)]; PMID:150198 [Fam.AA:II.23(025)] |
| 104994 | F | 215622 |
- | Dutch | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.11(IV.10)]; PMID:26279205 [Fam.NL1:IV.13(62)]; PMID:29403474 [Fam.NL1 (5):IV.13(62)]; PMID:150198 [Fam.AA:IV.14(070)]; PMID:35242131 [Fam.2.:II.1(P9)] |
| 105024 | M | 215625 | - | Bronchiectasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P4] | |
| 105043 | F | 215630 |
- | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
| 105050 | F | 215633 | - | Bronchiectasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2] | |
| 105093 | F | 215639 |
- | Israeli | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)] |
| 105102 | M | 215640 |
17 | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
| 105110 | M | 215644 | - | Bronchiectasis | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
| 105112 | F | 215646 | - | Bronchiectasis | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
| 105176 | F | 215661 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
| 105180 | M | 215662 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
| 105225 | F | 215671 |
34 | Finnish | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
| 105241 | M | 215673 | - | Kuwaiti | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:27760045 [P3(II.1)] |
| 105256 | F | 210008 |
- | German | Bronchiectasis | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
| 105296 | F | 215686 |
- | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)] |
| 105301 | M | 215686 |
- | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
| 105302 | M | 215686 |
- | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
| 105313 | M | 215688 |
- | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)] |
| 105314 | F | 215689 | - | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
| 105315 | F | 215690 | - | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
| 105317 | M | 215692 |
- | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
| 105332 | U | 215694 | - | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
| 105335 | U | 215697 | - | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
| 105337 | U | 215699 | - | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
| 105338 | U | 215700 | - | European | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
| 105353 | F | 215715 | 10 | Turkish | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:26686526 [P1] |
| 105412 | F | 215762 |
23 | Caucasian | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)] |
| 105416 | F | 215764 |
- | Chinese (China) | Bronchiectasis | NFKB1 insufficiency | PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)] |
| 105481 | M | 215777 |
- | Haitian/Hispanic | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
| 105489 | F | 215782 | - | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | PMID:28983403 [P3] | |
| 105542 | M | 215796 | 49 | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P6] | |
| 105564 | M | 215807 |
25 | Spanish | Bronchiectasis | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
| 105567 | M | 215808 | - | Turkish | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
| 105568 | M | 215809 | 0 | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24698326 [Fam.A:II.1(P2)] | |
| 105575 | U | 215814 | - | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24698326 [P6] | |
| 105591 | F | 215821 | - | Caucasian | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.2:II.1(F2P2)] |
| 105635 | F | 215829 | - | Caucasian | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:26371693 [1] |
| 105658 | M | 215836 | 2 | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.1(Sibling 1)] | |
| 105659 | F | 215836 | - | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
| 105691 | M | 215841 |
- | Australian | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)] |
| 105740 | U | 215845 | - | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
| 105741 | F | 215846 | - | Indian | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426] |
| 105751 | M | 215854 | - | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
| 105758 | M | 215861 | - | Iranian | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
| 105763 | F | 215864 |
- | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.BQ:I.1(I.1)]; PMID:150198 [Fam.DB:I.2(448)]; PMID:36105815 [Fam.D186Y:I.1(D186Y/1)] | |
| 105774 | F | 215867 | - | German | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [BV.I.1]; PMID:150198 [Fam.DG:464]; PMID:36105815 [P246T] |
| 105777 | M | 215870 | - | Iranian | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2] |
| 105780 | F | 215873 | - | German | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
| 105791 | F | 215877 |
- | Spanish | Bronchiectasis | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
| 105824 | M | 215834 |
- | Spanish | Bronchiectasis | NFKB1 insufficiency | PMID:32278790 [Fam.AV:I.2(I.2)]; PMID:150198 [Fam.BL:I.1(292)] |
| 105827 | M | 215884 | 9 | German | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.Sporadic patien:Sporadic patient 1] |
| 105839 | M | 215888 |
- | Romani | Bronchiectasis | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.3:II.1(3.1)] |
| 105844 | M | 215889 |
- | Spanish | Bronchiectasis | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.4:II.1(4.1)] |
| 105859 | F | 215894 |
- | British | Bronchiectasis | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
| 105911 | F | 215906 |
- | French | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:III.1(P2)] |
| 105918 | F | 215908 |
- | Moroccan | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:I.1(P3)] |
| 105921 | F | 215908 |
- | Moroccan | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
| 105924 | F | 215908 |
- | Moroccan | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.5(P6)] |
| 105943 | M | 215912 |
- | Colombian/Swiss | Bronchiectasis | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
| 106047 | F | 215930 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
| 106057 | F | 210991 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
| 106060 | F | 210991 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))] |
| 106068 | M | 215931 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
| 106069 | F | 215932 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
| 106070 | F | 215933 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
| 106094 | M | 215947 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
| 106099 | M | 210955 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))] |
| 106105 | M | 215950 | - | Caucasian | Bronchiectasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
| 106242 | F | 215977 | - | Caucasian | Bronchiectasis | PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.IV.2:II.2(II.1)] | |
| 106352 | M | 215998 |
- | Bronchiectasis | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
| 106355 | F | 215999 |
- | British | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:34922003 [Fam.C:II.1(C1)] |
| 106409 | M | 216010 |
27 | Chinese (China) | Bronchiectasis | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
| 106471 | M | 216025 | - | Egyptian | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:32506362 [P6] |
| 106669 | M | 216103 | - | Bronchiectasis | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
| 106684 | F | 216108 | 62 | Asian | Bronchiectasis | NFKB1 insufficiency | PMID:36105815 [G136S] |
| 106712 | M | 215871 |
- | Spanish | Bronchiectasis | NFKB1 insufficiency | PMID:150198 [Fam.DM:I.1(470)]; PMID:36105815 [Fam.G386R:I.1(G386R/2)] |
| 106767 | M | 216125 | - | Bronchiectasis | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] | |
| 106788 | F | 216139 | - | Bronchiectasis | Immunodeficiency, common variable, 8 | PMID:34619682 [P.71] | |
| 106792 | F | 216141 |
- | Bronchiectasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.227] | |
| 106794 | F | 216145 |
- | German | Bronchiectasis | Immunodeficiency, common variable, 14 | PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)] |
| 106812 | F | 216158 | - | Bronchiectasis | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
| 107044 | M | 216283 | - | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:28983403 [P1] | |
| 107045 | M | 216284 | - | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:28428270 [P1] | |
| 107138 | M | 216357 | 3 | Bronchiectasis | Activated p110-delta syndrome 1 | PMID:28469999 [Patient(II.1)] | |
| 107151 | M | 216364 |
6 | Turkish | Bronchiectasis | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
| 107156 | F | 216365 |
10 | Turkish | Bronchiectasis | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
| 107161 | F | 216366 |
10 | Sri Lankan Tamil | Bronchiectasis | Adenosine deaminase 2 deficiency | PMID:26607704 [P1(II.1)] |
| 107247 | F | 216396 | - | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
| 107248 | F | 216397 | - | Kuwaiti | Bronchiectasis | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).