Neutropenia
Basic details
Preferred term: Neutropenia
Alt. terms: Low neutrophil count | Low blood neutrophil count | Peripheral neutropenia
HPO term: Neutropenia
HPO code: HP:0001875
GenIA ID: 29
Last updated on: 2024-04-25 14:48:58
Cross ref. with other ontologies
NCIT: C80520
MESH: D009503
EFO: -
OAE:0001217
SNOMEDCT: -
ICD10: -
Description
An abnormally low number of neutrophils in the peripheral blood. Mild neutropenia is defined as an absolute neutrophil count (ANC) of less than 1500 cells per microliter of blood, moderate less than 1000 cells/µl, and severe is less than 500 cells/µl. Neutropenia can also be cyclic (intermittent) or chronic (permanent) depending on the oscillation and duration of low ANC. Neutropenia is a relatively frequent finding (Hsieh et al, 2007); approximately 1% of the population is living with a mild to severe neutropenia and this rises up to 8% for some geographic origins, such as Africa (Donadieu J et al, 2013).
Hierarchical classification
PARENT terms
TERM
Neutropenia
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101040 | F | 210724![]() |
- | Caucasian | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101089 | M | 211033 | 20 | Cyclic neutropenia | PMID:34975878 [Fam.F055:P055] | ||
101120 | M | 210221 | 47 | German | Neutropenia | PMID:34975878 [Fam.F071:P071] | |
101155 | M | 210235 | - | German | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
101312 | M | 212149 | 7 | Lebanese | Neutropenia | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
101371 | M | 212161 | - | Turkish | Neutropenia | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
101386 | F | 212164 | 4 | Pakistani | Neutropenia | Immunodeficiency, common variable, 8 | PMID:22981790 [P1(II.1)]; PMID:26707784 [P11] |
101388 | M | 212165 | 3 | Palestinian | Neutropenia | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.1:P1]; PMID:26707784 [P20] |
101403 | M | 210189![]() |
- | German | Neutropenia | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
101452 | M | 212394 | - | Iranian | Neutropenia | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33] |
101469 | F | 210220![]() |
20,- | German | Autoimmune neutropenia,Neutropenia | NFKB1 insufficiency | PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)] |
101553 | M | 210256 | - | German | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
101565 | M | 211008![]() |
1 | Caucasian | Transient neutropenia | NFKB1 insufficiency | PMID:34975878 [Fam.F188:P188]; PMID:32278790 [Fam.BS:II.1(II.1)]; PMID:150198 [Fam.DD:II.1(457)]; PMID:36105815 [Fam.M216V:II.1(M216V/1)] |
101573 | F | 210707 | 4 | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F196:P196] | |
101753 | M | 210024 | - | Japanese | Neutropenia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
101775 | M | 210908![]() |
- | Argentinian | Neutropenia | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101800 | M | 215769![]() |
- | Caucasian | Autoimmune neutropenia | 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)] |
101808 | F | 211441 | - | Neutropenia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
101884 | M | 212237![]() |
- | Sudanese | Neutropenia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
101959 | M | 210641 | 41 | German | Autoimmune neutropenia | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.4(II.4)]; PMID:16384931 [Fam.C:II.4(P6)]; PMID:19426217 [Fam.C:II.4(P6)]; PMID:28861081 [Fam.3:II.4(P6)] |
101962 | M | 212237![]() |
- | Sudanese | Neutropenia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
102175 | M | 210725![]() |
- | Caucasian | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102207 | M | 214915![]() |
12 | Neutropenia | Tubulointerstitial kidney disease type 5 | PMID:27392076 [Fam.2:II.2(II:2)] | |
102209 | F | 214915![]() |
0 | Neutropenia | Tubulointerstitial kidney disease type 5 | PMID:27392076 [Fam.2:III.1(III:1)] | |
102216 | F | 214916![]() |
2 | Belgian | Neutropenia | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
102357 | M | 214937![]() |
1 | German | Neutropenia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102421 | M | 214949![]() |
15 | French | Neutropenia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.1(P3)] |
102626 | M | 214969![]() |
15 | Filipino | Neutropenia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
102630 | M | 214970![]() |
1 | European | Neutropenia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
102633 | M | 214971![]() |
7 | European | Neutropenia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.3:II.1(P3)] |
102637 | M | 214972![]() |
16 | Neutropenia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
102641 | M | 214973![]() |
16 | European | Neutropenia | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.5:II.2(P5)] |
102645 | M | 214974![]() |
1 | Caucasian | Neutropenia | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
102786 | F | 214988![]() |
23 | Turkish | Neutropenia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
102884 | M | 215004![]() |
0 | Admixed | Neutropenia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.2:II.1(P2)]; PMID:33464451 [P4]; PMID:22721479 [Patient]; PMID:28077132 [P8] |
102987 | F | 215075![]() |
15 | Austrian | Neutropenia | Immunodeficiency 97 | PMID:33054089 [Patient(II.1)] |
103076 | F | 215099![]() |
2 | Omani | Neutropenia | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103238 | F | 215108![]() |
38 | French | Neutropenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:IV.5(17)] |
103248 | M | 215108![]() |
63 | French | Neutropenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:III.4(10)] |
103252 | F | 215108![]() |
38 | French | Neutropenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.1:IV.2(14)] |
103257 | F | 215109![]() |
38 | British | Neutropenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.2:I.2(21)] |
103261 | M | 215109![]() |
13 | British | Neutropenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.2:II.1(22)] |
103263 | M | 215109![]() |
8 | British | Neutropenia | Deafness 1, with or without thrombocytopenia | PMID:26912466 [Fam.2:II.3(24)] |
103351 | M | 215121![]() |
35 | North American | Neutropenia | Deafness 1, with or without thrombocytopenia | PMID:32594080 [P1(III.1)] |
103473 | F | 215134![]() |
- | French | Neutropenia | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103477 | F | 215134![]() |
0 | French | Neutropenia | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)] |
103478 | M | 215135![]() |
1 | French | Neutropenia | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
103482 | F | 215136![]() |
3 | British | Neutropenia | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
103485 | F | 215137![]() |
1 | French | Neutropenia | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
104000 | M | 215321 | - | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P4] | |
104003 | F | 215324 | - | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P7] | |
104004 | F | 215325 | - | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
104005 | F | 215326![]() |
- | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
104007 | M | 215326![]() |
- | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:I.2(P10)]; PMID:35677041 [Pt5] | |
104008 | F | 215326![]() |
- | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.2(P11)] | |
104532 | M | 215544![]() |
- | Caucasian | Neutropenia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.A:II.1(Patient A)] |
104540 | M | 215549![]() |
6,- | North African | Autoimmune neutropenia,Neutropenia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
104787 | M | 215573![]() |
- | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
104791 | M | 215575![]() |
- | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
104842 | M | 215579![]() |
- | European | Neutropenia | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.1(II.1)]; PMID:26279205 [Fam.NZ:II.1(II1)]; PMID:29403474 [Fam.NZ (5):II.1(II1)]; PMID:29806948 [Fam.NZ:II.1(II.1)]; PMID:30323807 [Fam.2:II.1(II.1)]; PMID:150198 [Fam.AC:II.1(108)] |
104886 | F | 215613![]() |
- | Caucasian | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
-,7 | Caucasian | Autoimmune neutropenia,Neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)] |
105043 | F | 215630![]() |
- | Caucasian | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105046 | M | 215632![]() |
6 | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Fam.1:II.1(Patient 1)] | |
105105 | F | 215643![]() |
15 | Caucasian | Neutropenia | NFKB1 insufficiency | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
105129 | M | 215647![]() |
- | Neutropenia | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
105172 | M | 215659 | -,- | Caucasian | Autoimmune neutropenia,Neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105175 | M | 215660 | -,- | Caucasian | Autoimmune neutropenia,Neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Q:II.1(Q.II.1 (44))]; PMID:27102614 [Fam.B:I.1(2)] |
105225 | F | 215671![]() |
- | Finnish | Neutropenia | 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)] |
105231 | M | 215671![]() |
- | Finnish | Neutropenia | NFKB1 insufficiency | PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)] |
105246 | M | 215674![]() |
9 | Caucasian | Autoimmune neutropenia | NFKB1 insufficiency | PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)] |
105251 | M | 215678 | - | Neutropenia | Combined immunodeficiency 36 | PMID:33876203 [P1(II.1)] | |
105313 | M | 215688![]() |
- | European | Neutropenia | 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)] |
105335 | U | 215697 | - | European | Autoimmune neutropenia | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105363 | F | 215722 | 13,- | Afro-American | Autoimmune neutropenia,Neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105398 | F | 215749 | - | Neutropenia | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
105403 | M | 215754 | 10 | Neutropenia | Immunodeficiency, common variable, 8 | PMID:32915433 [Patient 1] | |
105423 | M | 215765![]() |
- | Caucasian | Neutropenia | NFKB1 insufficiency | PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)] |
105428 | M | 215766![]() |
2 | Admixed | Neutropenia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
105471 | M | 215775![]() |
2 | Filipino | Neutropenia | NFKB1 insufficiency | PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T] |
105543 | M | 215797 | 30 | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105549 | F | 215801 | 11 | Caucasian | Neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105562 | M | 215805 | 15 | Turkish | Neutropenia | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
105569 | F | 215809 | - | Neutropenia | Activated p110-delta syndrome 1 | PMID:24698326 [Fam.A:II.2(P7)] | |
105574 | U | 215813 | - | Neutropenia | Activated p110-delta syndrome 1 | PMID:24698326 [P5] | |
105576 | U | 215815 | - | Neutropenia | Activated p110-delta syndrome 1 | PMID:24698326 [P8] | |
105746 | M | 215851![]() |
57 | Finnish | Neutropenia | Immunodeficiency, common variable, 14 | PMID:34451894 [Patient(II.2)]; PMID:37876937 [Fam.C:II.2(C.1)] |
105783 | F | 215876![]() |
- | Caucasian | Neutropenia | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
105827 | M | 215884 | 10 | German | Neutropenia | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.Sporadic patien:Sporadic patient 1] |
105852 | M | 215893![]() |
- | Neutropenia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S170(II.1)] | |
105899 | F | 215900![]() |
4 | North American | Neutropenia | NFKB1 insufficiency | PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)] |
105907 | M | 215904 | - | Caucasian | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.J:II.1(J.II.1 (32))] |
105926 | M | 215909 | - | Japanese | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)] |
105973 | F | 215917 | - | Japanese | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.V:II.1(V.II.1 (53))]; PMID:35087518 [14.1] |
105981 | M | 215919 | - | Caucasian | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
106041 | M | 215926 | - | Caucasian | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106047 | F | 215930 | - | Caucasian | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106077 | M | 215934 | -,- | Caucasian | Autoimmune neutropenia,Neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))] |
106097 | M | 215948 | - | Caucasian | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.WW:II.1(WW.II.1 (125))] |
106109 | M | 215952![]() |
4 | Iranian | Neutropenia | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106223 | M | 215976![]() |
- | Finnish | Neutropenia | NFKB1 insufficiency | PMID:150198 [Fam.FN:II.1(710)]; PMID:36356849 [Fam.4:II.1(F4:II:1)]; PMID:38593810 [Fam.3:II.1(F3.II-1)] |
106320 | M | 215984 | 3 | Neutropenia | NFKB1 insufficiency | PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V] | |
106423 | F | 216015![]() |
9 | Neutropenia | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)] | |
106445 | M | 216015![]() |
- | Neutropenia | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
106592 | M | 216085 | 15 | Neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
106652 | F | 216099 | - | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Fam.Patient:III.2(Sister)] | |
106697 | F | 216110 | - | Japanese | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1] |
106710 | M | 216117 | - | Japanese | Autoimmune neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.25:25.1] |
106753 | F | 216122![]() |
1 | Chinese (China) | Neutropenia | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
106812 | F | 216158 | 12,23 | Autoimmune neutropenia,Neutropenia | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106819 | M | 216163![]() |
54 | Chinese (China) | Neutropenia | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106840 | M | 216167 | - | SouthEast Asian | Neutropenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35242131 [3] |
106854 | F | 216173![]() |
1 | Caucasian | Neutropenia | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.5:II.1(P5)] |
106857 | F | 216173![]() |
3 | Caucasian | Neutropenia | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.5:II.2(P6)] |
106957 | F | 216198 | - | Neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P13] | |
106960 | M | 216201 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P1] | |
106961 | F | 216202 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P2] | |
106962 | F | 216203 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P3] | |
106963 | M | 216204 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P4] | |
106964 | M | 216205 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P5] | |
106965 | M | 216206 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P6] | |
106968 | M | 216209 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P9] | |
106970 | M | 216211 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P11] | |
106972 | M | 216213 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P13] | |
106974 | M | 216215 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P15] | |
106977 | M | 216218 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P18] | |
106978 | F | 216219 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P19] | |
106980 | M | 216221 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P21] | |
106981 | F | 216222 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P22] | |
106983 | M | 216224 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P24] | |
106984 | M | 216225 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P25] | |
106986 | M | 216227 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P27] | |
106987 | F | 216228 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P28] | |
106989 | F | 216230 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P30] | |
106990 | F | 216231 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:22591296 [P31] | |
107100 | M | 216334![]() |
2 | Japanese | Autoimmune neutropenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.5:II.1(P5.1)] |
107118 | F | 216340![]() |
- | Iranian | Neutropenia | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P2(II.2)] |
107149 | M | 216363 | 0 | Iranian | Neutropenia | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.3(P1)] |
107161 | F | 216366![]() |
10 | Sri Lankan Tamil | Neutropenia | Adenosine deaminase 2 deficiency | PMID:26607704 [P1(II.1)] |
107176 | M | 216369 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:26419508 [Patient 1] | |
107177 | F | 216370 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:26419508 [Patient 2] | |
107178 | M | 216371 | - | Neutropenia | T-cell LGL leukemia 1 | PMID:26419508 [Patient 4] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).