Recurrent lower respiratory tract infections
Preferred term: Recurrent lower respiratory tract infections
Alt. terms: lung infections | lower respiratory infections | chest infections
HPO term: Recurrent lower respiratory tract infections
HPO code: HP:0002783
GenIA ID: 13
Last updated on: 2022-05-14 16:46:45
Cross ref. to other ontologies
NCIT: C35158
MESH: -
EFO: -
OAE:0001142
SNOMEDCT: -
ICD10: -
Description
An acute or chronic, viral or bacterial infectious process that affects the lower respiratory tract.
Hierarchical classification
PARENT terms
TERM
Recurrent lower respiratory tract infections
Reported patients added to GenIA
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101015 | M | 210203 | 14 | German | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [MM.II.1]; PMID:29729943 [MM.II.1 (87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3]; PMID:34111452 [AM.II.1 (87)]; PMID:37740092 [P25] |
| 101017 | F | 210232 | 2 | German | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F003:P003] | |
| 101020 | F | 210008 |
27 | German | Bronchitis | NFKB1 insufficiency | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
| 101021 | M | 210359 | 20 | German | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F006:P006] | |
| 101022 | M | 210482 | 16,16 | German | Bronchitis,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F007:P007] | |
| 101024 | F | 210927 | 33,33 | Bronchitis,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F009:P009] | ||
| 101025 | M | 210937 | 43 | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F010:P010] | ||
| 101026 | M | 210215 | 20,20 | Bronchitis,Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F011:P011] | ||
| 101027 | M | 211035 | 28 | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F012:P012] | ||
| 101038 | F | 210182 |
-,-,- | Caucasian | Bronchitis,Recurrent lower respiratory tract infections,Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.6(B.II.4)]; PMID:30250467 [B.II.4]; PMID:29729943 [Fam.B:II.6(B.II.4 (16))]; PMID:34975878 [Fam.F014:III.6(P015)]; PMID:27418640 [P14(5)]; PMID:34111452 [B.II.4 (16)] |
| 101043 | M | 210725 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(H.II.2 (30))]; PMID:34975878 [Fam.F017:P017]; PMID:34111452 [H.II.2 (30)] |
| 101063 | M | 210118 | - | German | Bronchitis | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
| 101065 | F | 211364 | - | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F033:P033] | |
| 101077 | F | 210211 | - | German | Bronchitis | PMID:34975878 [Fam.F043:P043] | |
| 101078 | F | 211301 | - | Bronchitis | PMID:34975878 [Fam.F044:P044] | ||
| 101080 | F | 211150 | 61 | Bronchitis | PMID:34975878 [Fam.F046:P046] | ||
| 101084 | F | 211225 | - | Bronchitis | PMID:34975878 [Fam.F050:P050] | ||
| 101085 | F | 210196 | 36 | Bronchitis | PMID:34975878 [Fam.F051:P051] | ||
| 101087 | M | 211335 | - | German | Bronchitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
| 101088 | M | 211560 | 40 | German | Bronchitis | PMID:34975878 [Fam.F054:P054] | |
| 101095 | M | 210286 | 4 | Bronchitis | PMID:34975878 [Fam.F060:P060] | ||
| 101097 | F | 211399 | 44 | Bronchitis | PMID:34975878 [Fam.F061:P061] | ||
| 101115 | F | 210778 | - | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
| 101118 | F | 210735 | 35 | Bronchitis | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
| 101119 | M | 210264 | 19 | Bronchitis | PMID:34975878 [Fam.F070:P070] | ||
| 101120 | M | 210221 | 44 | German | Bronchitis | PMID:34975878 [Fam.F071:P071] | |
| 101123 | M | 210255 | 14 | Bronchitis | PMID:34975878 [Fam.F074:P074] | ||
| 101124 | F | 210216 | - | German | Bronchitis | PMID:34975878 [Fam.F075:P075] | |
| 101127 | F | 210318 | 33 | German | Bronchitis | PMID:34975878 [Fam.F077:P077] | |
| 101128 | M | 210897 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [OO.II.1 (95)]; PMID:34111452 [AO.II.1 (95)]; PMID:37740092 [P07] |
| 101129 | F | 210906 | 10 | German | Bronchitis | PMID:34975878 [Fam.F078:P078] | |
| 101130 | F | 210465 | 21 | German | Bronchitis | PMID:34975878 [Fam.F079:P079] | |
| 101131 | F | 210337 | 35 | German | Bronchitis | PMID:34975878 [Fam.F080:P080] | |
| 101132 | M | 210304 | 2 | German | Bronchitis | PMID:34975878 [Fam.F081:P081] | |
| 101145 | M | 211221 |
- | German | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)] |
| 101155 | M | 210235 | - | German | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [JJ.II.1 (83)]; PMID:34975878 [Fam.F098:P098]; PMID:34111452 [AJ.II.1 (83)] |
| 101171 | M | 210012 |
1 | Dutch | Recurrent lower respiratory tract infections | ?Immunodeficiency, common variable, 20 | PMID:25926555 [Patient(II.1)] |
| 101177 | F | 212111 | 1 | Bronchitis | PMID:34975878 [Fam.F407:P407] | ||
| 101186 | F | 211471 | - | Bronchitis | PMID:34975878 [Fam.F118:P118] | ||
| 101194 | M | 212378 | - | Egyptian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES49] |
| 101195 | F | 212379 | - | Egyptian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES19] |
| 101199 | F | 211483 | - | German | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [YY.II.1 (127)]; PMID:34975878 [Fam.F122:P122]; PMID:34111452 [AY.II.1 (127)]; PMID:37740092 [P10] |
| 101201 | F | 211487 | - | Bronchitis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |
| 101202 | F | 211487 | - | Bronchitis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:III.1(P124)]; PMID:30941118 [Fam.1404:III.1(Pt#23)] | |
| 101203 | M | 211488 | - | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
| 101204 | M | 211492 | - | German | Bronchitis | PMID:34975878 [Fam.F126:P126] | |
| 101260 | M | 212144 | 7 | Iranian | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
| 101365 | M | 212160 | - | North American | Bronchitis | Immunodeficiency, common variable, 8 | PMID:27379089 [P14] |
| 101371 | M | 212161 | 1 | Turkish | Bronchitis | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
| 101382 | M | 210641 | 20 | German | Bronchitis | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.3(II.3)]; PMID:16384931 [Fam.C:II.3(P5)]; PMID:19426217 [Fam.C:II.3(P5)]; PMID:28861081 [Fam.3:II.3(P5)] |
| 101401 | F | 210205 |
-,17,- | Caucasian | Bronchitis,Recurrent lower respiratory tract infections,Recurrent respiratory infections | 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)]; PMID:34111452 [A.II.9 (6)] |
| 101403 | M | 210189 |
- | German | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
| 101410 | F | 210902 | - | German | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4] |
| 101425 | M | 210205 |
-,-,- | Caucasian | Bronchitis,Recurrent lower respiratory tract infections,Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.8(A.II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)]; PMID:34111452 [A.II.5 (4)] |
| 101426 | M | 212173 | - | Iranian | Recurrent upper and lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7] |
| 101452 | M | 212394 | - | Iranian | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33] |
| 101458 | F | 210656 |
-,- | Georgian | Recurrent lower respiratory tract infections,Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [E.II.3 (23)]; PMID:27418640 [P19(5)]; PMID:34111452 [E.II.3 (23)] |
| 101461 | M | 210929 | - | German | Bronchitis | NFKB1 insufficiency | PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27] |
| 101529 | M | 211278 | 7 | Bronchitis | PMID:34975878 [Fam.F176:P176] | ||
| 101543 | F | 210011 | 23 | Bronchitis | PMID:34975878 [Fam.F179:P179] | ||
| 101553 | M | 210256 | - | German | Bronchitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
| 101578 | M | 210205 |
30,- | German | Recurrent lower respiratory tract infections,Recurrent respiratory infections | 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)]; PMID:34111452 [A.II.8 (5)] |
| 101588 | M | 210935 | 42 | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F206:P206] | |
| 101596 | M | 212618 |
1 | Jewish | Recurrent lower respiratory tract infections | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
| 101630 | M | 211089 |
-,- | German | Bronchitis,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:34975878 [Fam.F219:P219]; PMID:34975878 [Fam.F219:P219]; PMID:32278790 [BR.I.1]; PMID:32278790 [BR.I.1]; PMID:150198 [Fam.DC:II.2(453)]; PMID:150198 [Fam.DC:II.2(453)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)] |
| 101633 | M | 210945 | - | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)] | |
| 101635 | F | 211154 | -,- | German | Bronchitis,Recurrent lower respiratory tract infections | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
| 101651 | M | 210939 | 21 | Bronchitis | PMID:34975878 [Fam.F226:P226] | ||
| 101659 | M | 211166 | - | Bronchitis | PMID:34975878 [Fam.F228:P228] | ||
| 101667 | M | 212631 |
0 | Moroccan | Bronchitis | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
| 101673 | M | 211156 | -,- | Bronchitis,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
| 101717 | F | 210260 |
-,- | Caucasian | Recurrent lower respiratory tract infections,Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]; PMID:34111452 [C.II.3 (19)] |
| 101731 | M | 210300 |
1 | North American | Bronchitis | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.3(P2)] |
| 101736 | M | 210300 |
- | North American | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.9(P6)] |
| 101741 | F | 210300 |
1 | North American | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.14(P10)] |
| 101744 | F | 210182 |
-,- | Caucasian | Recurrent lower respiratory tract infections,Recurrent respiratory infections | 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)]; PMID:34111452 [B.III.2 (17)] |
| 101754 | M | 210024 | - | Japanese | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
| 101767 | F | 210788 | 44 | Bronchitis | PMID:34975878 [Fam.F249:P249] | ||
| 101773 | M | 210876 |
- | German | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:34975878 [Fam.F413:P413]; PMID:32278790 [Fam.BK:II.1(II.1)]; PMID:150198 [Fam.CC:II.1(405)]; PMID:36105815 [R57C/1] |
| 101774 | M | 210908 |
- | Argentinian | Recurrent upper and lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
| 101775 | M | 210908 |
- | Argentinian | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
| 101776 | M | 210912 | - | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F251:P251] | |
| 101777 | F | 210920 | - | Libyan | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
| 101789 | M | 210950 |
- | Swiss | Recurrent upper and lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
| 101792 | M | 210991 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9 (92))]; PMID:34111452 [AN.II.9 (92)] |
| 101794 | F | 211030 | - | Italian | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
| 101797 | M | 211108 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [QQ.II.1 (97)]; PMID:34975878 [Fam.F258:P258]; PMID:34111452 [AQ.II.1 (97)] |
| 101798 | M | 211117 | - | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P11] | |
| 101799 | M | 211120 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [XX.II.1]; PMID:29729943 [XX.II.1 (126)]; PMID:34111452 [AX.II.1 (126)]; PMID:37740092 [P17] |
| 101800 | M | 215769 |
- | Caucasian | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)] |
| 101801 | M | 211151 | - | German | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] |
| 101802 | F | 211221 |
- | German | Bronchitis | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
| 101803 | F | 211221 |
60 | German | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:33995346 [Fam.A:II.2(Pat1)]; PMID:150198 [Fam.DV:II.2(521)]; PMID:36105815 [Fam.Y350C:II.2(Y350C/1)] |
| 101812 | F | 211521 | - | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
| 101818 | M | 211539 | - | Bronchitis | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F281:P281] | |
| 101819 | F | 211386 | 54,- | Bronchitis,Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:31057532 [Fam.F:I.2] | |
| 101826 | F | 211561 | 33 | German | Bronchitis | PMID:34975878 [Fam.F290:P290] | |
| 101827 | M | 211564 | 25 | Bronchitis | PMID:34975878 [Fam.F291:P291] | ||
| 101833 | M | 210887 | -,- | Bronchitis,Recurrent lower respiratory tract infections | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
| 101840 | F | 211591 | - | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
| 101846 | F | 211604 | - | Bronchitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F306:P306] | |
| 101855 | F | 211657 | - | Bronchitis | PMID:34975878 [Fam.F317:P317] | ||
| 101856 | F | 211487 | 0 | Bronchitis | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.1404:III.2(Pt#24)] | |
| 101882 | M | 211763 | - | Recurrent lower respiratory tract infections | PMID:34975878 [Fam.F325:P325] | ||
| 101884 | M | 212237 |
- | Sudanese | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
| 101902 | M | 211775 | 20 | Bronchitis | PMID:34975878 [Fam.F333:P333] | ||
| 101915 | F | 211935 | -,- | German | Bronchitis,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] |
| 101950 | F | 212045 | 11 | Bronchitis | PMID:34975878 [Fam.F372:P372] | ||
| 101961 | M | 212237 |
- | Sudanese | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
| 101962 | M | 212237 |
- | Sudanese | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
| 101975 | F | 214053 |
- | Turkish | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
| 102092 | F | 214311 | - | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES48] | |
| 102123 | M | 214347 | - | Macedonian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES50] |
| 102131 | F | 214351 |
1 | Sudanese | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.7(B.II.6)] |
| 102141 | F | 214393 |
- | North American | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 14 | PMID:27016798 [Patient(III.1)]; PMID:37876937 [Fam.A:III.1(A.1)] |
| 102157 | F | 214681 |
- | Italian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(R.II.5 (45))]; PMID:34111452 [R.II.5 (45)] |
| 102182 | F | 214681 |
- | Italian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:III.1(R.III.1 (46))]; PMID:34111452 [R.III.1 (46)] |
| 102216 | F | 214916 |
- | Belgian | Bronchitis | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
| 102222 | M | 214917 | 28,28 | German | Bronchitis,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
| 102239 | F | 214923 |
- | Brasilian | Recurrent upper and lower respiratory tract infections | ARPC1B deficiency | GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)] |
| 102250 | M | 214924 |
1 | Afghanistani | Recurrent lower respiratory tract infections | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
| 102270 | F | 214928 |
- | Japanese | Bronchitis | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
| 102274 | F | 214929 |
- | German | Bronchitis | OAS1 immunodeficiency | PMID:34145065 [P1(II.2)] |
| 102277 | M | 214930 |
- | North American | Bronchitis | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
| 102281 | M | 214931 |
- | North American | Bronchitis | OAS1 immunodeficiency | PMID:34145065 [P3(II.2)] |
| 102285 | F | 214932 |
- | North American | Bronchitis | OAS1 immunodeficiency | PMID:34145065 [P4(II.2)] |
| 102421 | M | 214949 |
0 | French | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.1(P3)] |
| 102423 | M | 214949 |
- | French/Greek | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:I.2(P1)] |
| 102427 | M | 214950 |
10 | French | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
| 102439 | M | 214956 |
- | Bulgarian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
| 102444 | M | 214957 |
- | Slovak | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
| 102449 | F | 214958 |
0 | Mexican/Salvadoran | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
| 102453 | F | 214959 |
- | Turkish | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.F:II.2(P10)] |
| 102460 | M | 214960 |
9 | European | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.G:II.1(P11)] |
| 102463 | M | 214961 |
- | European | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.H:II.1(P12)] |
| 102507 | F | 214948 |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.9(P2)]; PMID:22354167 [Fam.A:IV.10(P1.2)] |
| 102511 | M | 214948 |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.14(P4)]; PMID:22354167 [Fam.A:IV.14(P1.4)] |
| 102512 | F | 214948 |
- | Irish Traveller | Recurrent lower respiratory tract infections | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.15]; PMID:22354167 [Fam.A:IV.15(P1.5)] |
| 102530 | M | 214966 |
- | Japanese | Bronchitis | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
| 102677 | M | 214980 |
1 | Pakistani | Recurrent lower respiratory tract infections | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
| 102775 | F | 214986 |
- | Afro-Caribbean | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.B:II.5(P4)] |
| 102786 | F | 214988 |
- | Turkish | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
| 102792 | M | 214989 |
- | Turkish | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.E:II.1(P7)] |
| 102796 | M | 214990 |
- | Lebanese | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.F:II.5(P8)] |
| 102815 | M | 214994 | - | Recurrent lower respiratory tract infections | Immunodeficiency 8 | PMID:34913575 [Patient] | |
| 102900 | F | 215007 |
- | Turkish | Recurrent lower respiratory tract infections | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [Fam.P1:II.2(P2)]; PMID:33464451 [Fam.P12:II.2(P13)]; PMID:37419334 [P13(27)] |
| 102934 | F | 215035 |
- | Caucasian | Bronchitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)] |
| 103051 | M | 215095 |
- | Finnish | Recurrent lower respiratory tract infections | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
| 103128 | F | 215101 |
18 | Saudi | Recurrent lower respiratory tract infections | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.5] |
| 103292 | F | 215114 | - | German | Bronchitis | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
| 103448 | F | 215129 |
- | Saudi | Recurrent lower respiratory tract infections | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.1:II.2(P1)] |
| 103473 | F | 215134 |
- | French | Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
| 103477 | F | 215134 |
- | French | Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)] |
| 103478 | M | 215135 |
- | French | Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
| 103482 | F | 215136 |
- | British | Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
| 103485 | F | 215137 |
- | French | Recurrent lower respiratory tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
| 103877 | F | 215266 |
1 | Finnish | Recurrent lower respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
| 104386 | M | 215518 |
- | Ivorian | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P19(II.1)] |
| 104444 | F | 215528 |
1 | Spanish | Bronchitis | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
| 104449 | M | 215529 |
1 | Middle Eastern | Recurrent lower respiratory tract infections | Early-onset atopic inflammation | PMID:36884218 [Fam.C:II.1(P4)] |
| 104625 | M | 215559 |
- | Bronchitis | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.B:II.2(P2)] | |
| 104838 | M | 215578 |
-,12,- | Caucasian | Bronchitis,Recurrent lower respiratory tract infections,Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56]; PMID:34111452 [F.II.1 (24)] |
| 104923 | M | 215620 |
- | Bronchitis | Immunodeficiency, common variable, 14 | PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)] | |
| 104942 | F | 215622 |
- | Dutch | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)] |
| 104956 | F | 215622 |
39 | Dutch | Bronchitis | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.18(II.18)]; PMID:26279205 [Fam.NL1:II.22(19)]; PMID:29403474 [Fam.NL1 (5):II.22(19)]; PMID:11583829 [Fam.1:II.21(II:21)]; PMID:16639407 [Fam.1:II.22(19)]; PMID:150198 [Fam.AA:II.22(024)] |
| 104959 | F | 215622 |
- | Dutch | Recurrent lower respiratory tract infections | PMID:32278790 [Fam.NA:III.1(III.1)]; PMID:26279205 [Fam.NL1:III.1(23)]; PMID:29403474 [Fam.NL1 (5):III.1(23)]; PMID:11583829 [Fam.1:III.1(III:1)]; PMID:16639407 [Fam.1:III.1(23)]; PMID:150198 [Fam.AA:III.1(027)] | |
| 104960 | F | 215622 |
- | Dutch | Recurrent lower respiratory tract infections | PMID:32278790 [Fam.NA:III.2(III.2)]; PMID:26279205 [Fam.NL1:III.2(24)]; PMID:29403474 [Fam.NL1 (5):III.2(24)]; PMID:11583829 [Fam.1:III.2(III:2)]; PMID:16639407 [Fam.1:III.2(24)]; PMID:150198 [Fam.AA:III.2(028)] | |
| 105007 | F | 215622 |
- | Dutch | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.26(III.26)]; PMID:26279205 [Fam.NL1:III.28(40)]; PMID:29403474 [Fam.NL1 (5):III.28(40)]; PMID:11583829 [Fam.1:III.18(III:18)]; PMID:16639407 [Fam.1:III.19(40)]; PMID:150198 [Fam.AA:III.28(054)] |
| 105028 | F | 215627 | 18 | French | Bronchitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10] |
| 105034 | F | 215628 |
- | Finnish | Recurrent lower respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
| 105043 | F | 215630 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [BBB.II.1 (131)]; PMID:34111452 [CH.II.1 (131)] |
| 105045 | M | 215631 |
-,- | Caucasian | Bronchitis,Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10]; PMID:29729943 [CCC.II.1 (132)]; PMID:34111452 [CI.II.1 (132)] |
| 105050 | F | 215633 | - | Recurrent lower respiratory tract infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2]; PMID:31857100 [P2] | |
| 105088 | M | 215638 |
- | Japanese | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [Fam.P:II.3(case)]; PMID:30250467 [M.II.3]; PMID:29729943 [M.II.3 (37)]; PMID:27418640 [P21(16)]; PMID:34111452 [M.II.3 (37)]; PMID:35087518 [11.1] |
| 105175 | M | 215660 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Q.II.1 (44)]; PMID:27102614 [Fam.B:I.1(P2)]; PMID:34111452 [Q.II.1 (44)]; PMID:39218359 [5] |
| 105176 | F | 215661 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(P3)]; PMID:34111452 [L.II.1 (35)]; PMID:39218359 [3] |
| 105177 | M | 215661 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(P4)]; PMID:34111452 [L.II.2 (36)]; PMID:39218359 [20] |
| 105179 | F | 215661 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)]; PMID:34111452 [L.I.2 (34)] |
| 105180 | M | 215662 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [S.II.1 (47)]; PMID:27102614 [Fam.D:II.1(P5)]; PMID:34111452 [S.II.1 (47)]; PMID:39218359 [4] |
| 105212 | F | 215666 |
50 | Finnish | Bronchitis | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
| 105220 | F | 215666 |
15 | Finnish | Bronchitis | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
| 105241 | M | 215673 | - | Kuwaiti | Recurrent upper and lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:27760045 [P3(II.1)] |
| 105245 | M | 215674 |
- | Caucasian | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:29077208 [P2]; PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
| 105251 | M | 215678 | 3 | Recurrent pneumonia | Combined immunodeficiency 36 | PMID:33876203 [P1(II.1)] | |
| 105315 | F | 215690 | - | European | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
| 105357 | M | 215719 | 1 | Recurrent upper and lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
| 105370 | F | 215725 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [15.1]; PMID:34111452 [Z.III.1 (67)] |
| 105416 | F | 215764 |
7 | Chinese (China) | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)] |
| 105432 | M | 215767 |
- | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200] |
| 105437 | M | 215769 |
- | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.3(II.3)]; PMID:150198 [Fam.BT:III.3(329)]; PMID:31803180 [Fam.C:II.3(S5)]; PMID:34619682 [P.183] |
| 105450 | F | 215770 |
- | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
| 105453 | M | 215771 |
- | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:32278790 [BO.I.2]; PMID:150198 [Fam.BV:II.3(342)]; PMID:31803180 [Fam.E:II.3(S8)]; PMID:36105815 [Fam.R157P:II.3(S8)] |
| 105458 | M | 215771 |
- | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:32278790 [BO.I.1]; PMID:150198 [Fam.BV:II.5(344)]; PMID:31803180 [Fam.E:II.4(S9)]; PMID:36105815 [Fam.R157P:II.5(S9)]; PMID:34619682 [P.210] |
| 105463 | M | 215772 |
- | Russian | Bronchitis | NFKB1 insufficiency | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
| 105470 | M | 215774 | - | Iranian | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
| 105537 | M | 215793 | - | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
| 105542 | M | 215796 | - | Recurrent pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29077208 [P20]; PMID:28983403 [P6]; PMID:34111452 [BL.II.1 (149)]; PMID:37740092 [P04] | |
| 105543 | M | 215797 | 40 | Recurrent pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29077208 [P16]; PMID:28983403 [P7]; PMID:34111452 [BM.II.1 (150)] | |
| 105641 | F | 215831 |
38 | Chinese (China) | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:30363934 [case 1(I.2)] |
| 105658 | M | 215836 | 1 | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.1(Sibling 1)] | |
| 105659 | F | 215836 | 1 | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
| 105751 | M | 215854 | - | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
| 105830 | M | 215887 | 1 | Polish | Recurrent lower respiratory tract infections | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.2 Sporadic pati:2 Sporadic patient 2] |
| 105847 | M | 215890 |
1 | Spanish | Bronchitis | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.5:II.1(5.1)] |
| 105865 | M | 215894 |
1 | British | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 2 | PMID:150198 [Fam.EA:III.1(556)]; PMID:34922003 [Fam.A:III.1(A4)] |
| 105903 | F | 215903 |
- | Caucasian | Bronchitis | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.2(young-sister)] |
| 105907 | M | 215904 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.J:II.1(J.II.1 (32))]; PMID:34111452 [J.II.1 (32)] |
| 105910 | F | 215905 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [K.II.1 (33)]; PMID:34111452 [K.II.1 (33)] |
| 105911 | F | 215906 |
- | French | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:III.1(P2)] |
| 105915 | M | 215906 |
- | French | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:II.2(P1)] |
| 105918 | F | 215908 |
- | Moroccan | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:I.1(P3)] |
| 105921 | F | 215908 |
33 | Moroccan | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
| 105926 | M | 215909 |
- | Japanese | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:34111452 [N.III.2 (41)]; PMID:35087518 [Fam.12:III.2(12.4)] |
| 105943 | M | 215912 |
- | Colombian/Swiss | Recurrent lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
| 105949 | M | 215913 |
- | Caucasian | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.EC:II.2(563)]; PMID:36105815 [Fam.R231C:II.2(R231C/3)]; PMID:35003082 [Fam.1:II.2(P3/S.3)]; PMID:34619682 [P.233] |
| 105957 | M | 215914 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P.II.2 (43)]; PMID:34111452 [P.II.2 (43)]; PMID:39218359 [12] |
| 105986 | F | 215921 |
- | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
| 106036 | F | 215924 | - | Japanese | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [CC.II.1 (73)]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:34111452 [AC.II.1 (73)]; PMID:35087518 [18.1] |
| 106037 | M | 215925 |
- | Japanese | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.DD:II.1(DD.II.1 (75))]; PMID:30048690 [Fam.3:II.1(P3.2)]; PMID:34111452 [AD.II.1 (75)]; PMID:35087518 [Fam.19:II.1(19.2)] |
| 106043 | F | 215928 | - | Afro-American | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [HH.II.1 (82)]; PMID:34111452 [AH.II.1 (82)] |
| 106044 | F | 215929 |
- | Caucasian | Bronchitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))]; PMID:34111452 [AK.II.1 (85)]; PMID:37740092 [P14] |
| 106047 | F | 215930 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [LL.II.1 (86)]; PMID:34111452 [AL.II.1 (86)]; PMID:39218359 [13] |
| 106048 | M | 210991 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:I.1(NN.I.1 (88))]; PMID:34111452 [AN.I.1 (88)] |
| 106057 | F | 210991 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))]; PMID:34111452 [AN.II.6 (90)] |
| 106060 | F | 210991 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))]; PMID:34111452 [AN.II.8 (91)] |
| 106068 | M | 215931 | -,- | Caucasian | Recurrent lower respiratory tract infections,Recurrent pneumonia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [PP.II.1 (96)]; PMID:34111452 [AP.II.1 (96)] |
| 106069 | F | 215932 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [RR.II.1 (98)]; PMID:34111452 [AR.II.1 (98)]; PMID:28601686 [P9(II.1)] |
| 106070 | F | 215933 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [SS.II.1 (99)]; PMID:34111452 [AS.II.1 (99)]; PMID:30087679 [S6] |
| 106094 | M | 215947 |
- | Saudi | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]; PMID:34111452 [AV.II.1 (124)] |
| 106097 | M | 215948 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [WW.II.1 (125)]; PMID:34111452 [AW.II.1 (125)]; PMID:39218359 [9] |
| 106100 | F | 215949 | - | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [DDD.II.1 (133)]; PMID:34111452 [CJ.II.1 (133)] |
| 106173 | M | 215972 | - | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.FJ:661]; PMID:34619682 [P.254] | |
| 106242 | F | 215977 |
- | Caucasian | Recurrent lower respiratory tract infections | PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.1:II.2(II.1)]; PMID:34111452 [AU.II.2 (106)] | |
| 106246 | F | 215977 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.1:III.2(III.2)]; PMID:34111452 [AU.III.7 (111)] |
| 106259 | F | 215977 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.1:III.12(III.4)]; PMID:34111452 [AU.III.2 (107)] |
| 106264 | M | 215977 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.11(UU.IV.10 (119))]; PMID:29305966 [Fam.1:IV.5(IV.11)]; PMID:34111452 [AU.IV.10 (119)] |
| 106279 | M | 215977 |
- | Caucasian | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.1:V.1(V.1)]; PMID:34111452 [AU.V.2 (122)] |
| 106313 | F | 215982 | - | Caucasian | Recurrent lower respiratory tract infections | 2q33.1-33.3 deletion syndrome | PMID:29729943 [Chr2_1P1]; PMID:30326257 [previous1] |
| 106314 | M | 215983 | - | Caucasian | Recurrent lower respiratory tract infections | 2q33.1-33.3 deletion syndrome | PMID:29729943 [Chr2_2P2]; PMID:30326257 [previous2] |
| 106332 | F | 215988 |
- | Recurrent lower respiratory tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P1(43)(II.2)]; PMID:34860543 [Fam.1:II.2(P1)] | |
| 106346 | F | 215993 |
14 | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)] | |
| 106363 | F | 216001 |
1 | Argentinian | Recurrent lower respiratory tract infections | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
| 106459 | M | 216021 |
- | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | |
| 106464 | M | 216024 | - | Egyptian | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:32506362 [P5] |
| 106471 | M | 216025 | - | Egyptian | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:32506362 [P6] |
| 106474 | M | 216027 | - | Egyptian | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 8 | PMID:32506362 [P9] |
| 106491 | F | 216044 |
- | Recurrent lower respiratory tract infections | Immunodeficiency 22 | PMID:22985903 [Fam.1:II.1(patient)] | |
| 106535 | F | 216067 | - | Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [CB.II.1 (162)] | |
| 106536 | F | 216068 |
- | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [CE.II.1 (164)]; PMID:37595759 [Fam.F2:II.1(CM3)]; PMID:35491430 [Fam.F2:II.1(CM3)]; PMID:28601686 [P7(II.1)] |
| 106679 | F | 216106 |
- | Dutch | Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)] |
| 106684 | F | 216108 | 62 | Asian | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.GF:801]; PMID:36105815 [G136S] |
| 106714 | M | 215871 |
5 | Spanish | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.DM:II.2(473)]; PMID:36105815 [Fam.G386R:II.2(G386R/4)] |
| 106767 | M | 216125 | - | Recurrent lower respiratory tract infections | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] | |
| 106777 | F | 216128 | 1 | Brasilian | Recurrent pneumonia | T-negative/B-positive SCID type 1 | PMID:30177960 [Fam.Fam2:IV.2(Pt.2)] |
| 106788 | F | 216139 | - | Bronchitis | Immunodeficiency, common variable, 8 | PMID:34619682 [P.71] | |
| 106794 | F | 216145 |
- | German | Bronchitis | Immunodeficiency, common variable, 14 | PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)] |
| 106812 | F | 216158 | - | Recurrent lower respiratory tract infections | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
| 106839 | M | 216166 | 2 | Iraqi | Recurrent pneumonia | Immunodeficiency, common variable, 8 | PMID:34795304 [Fam.1:II.1(Case 1)] |
| 106912 | F | 216186 | 44 | Bronchitis | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
| 107151 | M | 216364 |
4 | Turkish | Recurrent upper and lower respiratory tract infections | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
| 107161 | F | 216366 |
10 | Sri Lankan Tamil | Recurrent lower respiratory tract infections | Adenosine deaminase 2 deficiency | PMID:26607704 [P1(II.1)] |
| 107376 | F | 216457 | 1 | European | Bronchitis | Leukocyte adhesion deficiency, type I | PMID:37601427 [Patient(I.2)] |
| 107394 | M | 216465 |
- | German | Bronchitis | NFKB1 insufficiency | PMID:150198 [Fam.GU:II.1(821)] |
| 107395 | M | 216466 |
12,- | German | Bronchitis,Recurrent lower respiratory tract infections | NFKB1 insufficiency | PMID:150198 [Fam.GV:II.2(829)] |
| 107487 | M | 216512 |
- | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F1:I.1(CM1)]; PMID:35491430 [Fam.F1:I.1(CM1)] |
| 107492 | F | 216515 |
-,- | Turkish | Recurrent lower respiratory tract infections,Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F5:I.1(CM8)]; PMID:35491430 [Fam.F5:I.1(CM8)] |
| 107493 | M | 216516 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F6:CM9]; PMID:35491430 [Fam.F6:CM9] |
| 107496 | M | 216517 |
- | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F7:II.1(CM11)]; PMID:35491430 [Fam.F7:II.1(CM11)] |
| 107498 | U | 216519 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F9:CM14] |
| 107499 | U | 216520 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F10:CM15] |
| 107500 | U | 216521 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F11:I.1(CM16)] |
| 107501 | U | 216522 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F12:II.1(CM17)] |
| 107507 | U | 216526 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F13:CM20] |
| 107508 | U | 216527 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F14:CM21] |
| 107512 | U | 216529 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F16:I.1(CM25)] |
| 107514 | U | 216530 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F17:CM27] |
| 107515 | U | 216531 |
- | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F18:II.1(CM28)] |
| 107521 | U | 216534 | - | Turkish | Recurrent lower respiratory tract infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F21:I.1(CM34)] |
| 107557 | M | 216565 |
- | German | Bronchitis | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:40274249 [S2(II.1)] |
| 107629 | M | 216591 | 4,6 | Recurrent lower respiratory tract infections,Recurrent pneumonia | Immunodeficiency, common variable, 8 | PMID:35490276 [Patient(II.3)] | |
| 107654 | F | 216598 |
- | Albanian | Recurrent pneumonia | Severe congenital neutropenia 6 | PMID:37120535 [16]; PMID:37528877 [14]; PMID:25129144 [Fam.G:II.1(P12)]; PMID:32419428 [Patient 12] |
| 107695 | M | 216602 | - | Egyptian | Recurrent pneumonia | Immunodeficiency, common variable, 8 | PMID:35723193 [Patient] |
| 107702 | M | 216605 | - | Georgian Jewish | Recurrent pneumonia | Immunodeficiency, common variable, 8 | PMID:36063261 [Patient 3] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).