NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency
Purpose Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated disease affects cells of the innate and adaptive...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
13 August 2021
|
| In: |
Journal of clinical immunology
Year: 2021, Jahrgang: 41, Heft: 8, Pages: 1781-1793 |
| ISSN: | 1573-2592 |
| DOI: | 10.1007/s10875-021-01110-7 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1007/s10875-021-01110-7 Verlag, kostenfrei, Volltext: https://link.springer.com/10.1007/s10875-021-01110-7 
|
| Verfasserangaben: | Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy, Joseph A. Church, Ellen Crushell, Anke Dick, Felix Distelmaier, Jidnyasa Gujar, Giuseppe Indolfi, Eberhard Lurz, Bianca Peters, Tobias Schwerd, Daniele Serranti, Stefan Kölker, Christoph Klein, Georg F. Hoffmann, Holger Prokisch, Johann Greil, Adelheid Cerwenka, Thomas Giese, Christian Staufner |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1856777766 | ||
| 003 | DE-627 | ||
| 005 | 20240306115402.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230821s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/s10875-021-01110-7 |2 doi | |
| 035 | |a (DE-627)1856777766 | ||
| 035 | |a (DE-599)KXP1856777766 | ||
| 035 | |a (OCoLC)1425063355 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Lenz, Dominic |d 1984- |e VerfasserIn |0 (DE-588)1047559943 |0 (DE-627)778553914 |0 (DE-576)401159140 |4 aut | |
| 245 | 1 | 0 | |a NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency |c Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy, Joseph A. Church, Ellen Crushell, Anke Dick, Felix Distelmaier, Jidnyasa Gujar, Giuseppe Indolfi, Eberhard Lurz, Bianca Peters, Tobias Schwerd, Daniele Serranti, Stefan Kölker, Christoph Klein, Georg F. Hoffmann, Holger Prokisch, Johann Greil, Adelheid Cerwenka, Thomas Giese, Christian Staufner |
| 264 | 1 | |c 13 August 2021 | |
| 300 | |a 12 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 21.08.2023 | ||
| 520 | |a Purpose Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated disease affects cells of the innate and adaptive immune system. - Methods Clinical and laboratory parameters were combined with functional multi-parametric immunophenotyping methods in fifteen NBAS-deficient patients to discover possible alterations in their immune system. - Results Our study revealed reduced absolute numbers of mature C D56dim natural killer (NK) cells. Notably, the residual NK cell population in NBAS-deficient patients exerted a lower potential for activation and degranulation in response to K562 target cells, suggesting an NK cell-intrinsic role for NBAS in the release of cytotoxic granules. NBAS-deficient NK cell activation and degranulation was normalized upon pre-activation by IL-2 in vitro, suggesting that functional impairment was reversible. In addition, we observed a reduced number of naïve B cells in the peripheral blood associated with hypogammaglobulinemia. - Conclusion In summary, we demonstrate that pathogenic biallelic variants in NBAS are associated with dysfunctional NK cells as well as impaired adaptive humoral immunity. | ||
| 700 | 1 | |a Pahl, Jens |e VerfasserIn |0 (DE-588)1171008406 |0 (DE-627)1040357687 |0 (DE-576)51282746X |4 aut | |
| 700 | 1 | |a Hauck, Fabian |e VerfasserIn |4 aut | |
| 700 | 1 | |a Alameer, Seham |e VerfasserIn |4 aut | |
| 700 | 1 | |a Balasubramanian, Meena |e VerfasserIn |4 aut | |
| 700 | 1 | |a Baric, Ivo |e VerfasserIn |4 aut | |
| 700 | 1 | |a Boy, Nikolas |d 1981- |e VerfasserIn |0 (DE-588)138823421 |0 (DE-627)606152210 |0 (DE-576)309253659 |4 aut | |
| 700 | 1 | |a Church, Joseph A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Crushell, Ellen |e VerfasserIn |4 aut | |
| 700 | 1 | |a Dick, Anke |e VerfasserIn |4 aut | |
| 700 | 1 | |a Distelmaier, Felix |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gujar, Jidnyasa |e VerfasserIn |4 aut | |
| 700 | 1 | |a Indolfi, Giuseppe |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lurz, Eberhard |e VerfasserIn |4 aut | |
| 700 | 1 | |a Peters, Bianca |d 1996- |e VerfasserIn |0 (DE-588)1256618594 |0 (DE-627)1800639090 |4 aut | |
| 700 | 1 | |a Schwerd, Tobias |e VerfasserIn |4 aut | |
| 700 | 1 | |a Serranti, Daniele |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kölker, Stefan |e VerfasserIn |0 (DE-588)1022937758 |0 (DE-627)717335771 |0 (DE-576)366197568 |4 aut | |
| 700 | 1 | |a Klein, Christoph |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 700 | 1 | |a Prokisch, Holger |e VerfasserIn |4 aut | |
| 700 | 1 | |a Greil, Johann |e VerfasserIn |0 (DE-588)1078331979 |0 (DE-627)838332455 |0 (DE-576)450711498 |4 aut | |
| 700 | 1 | |a Cerwenka, Adelheid |d 1968- |e VerfasserIn |0 (DE-588)1076261019 |0 (DE-627)834583658 |0 (DE-576)271029749 |4 aut | |
| 700 | 1 | |a Giese, Thomas |d 1962- |e VerfasserIn |0 (DE-588)143133543 |0 (DE-627)704399075 |0 (DE-576)333724496 |4 aut | |
| 700 | 1 | |a Staufner, Christian |d 1980- |e VerfasserIn |0 (DE-588)141097515 |0 (DE-627)703880950 |0 (DE-576)321299469 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of clinical immunology |d Dordrecht [u.a.] : Springer Science + Business Media B.V, 1981 |g 41(2021), 8, Seite 1781-1793 |h Online-Ressource |w (DE-627)320573362 |w (DE-600)2016755-6 |w (DE-576)104082313 |x 1573-2592 |7 nnas |a NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency |
| 773 | 1 | 8 | |g volume:41 |g year:2021 |g number:8 |g pages:1781-1793 |g extent:12 |a NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s10875-021-01110-7 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://link.springer.com/10.1007/s10875-021-01110-7 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20230821 | ||
| 993 | |a Article | ||
| 994 | |a 2021 | ||
| 998 | |g 141097515 |a Staufner, Christian |m 141097515:Staufner, Christian |d 910000 |d 910500 |d 50000 |e 910000PS141097515 |e 910500PS141097515 |e 50000PS141097515 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 25 |y j | ||
| 998 | |g 143133543 |a Giese, Thomas |m 143133543:Giese, Thomas |d 910000 |d 911600 |d 50000 |e 910000PG143133543 |e 911600PG143133543 |e 50000PG143133543 |k 0/910000/ |k 1/910000/911600/ |k 0/50000/ |p 24 | ||
| 998 | |g 1076261019 |a Cerwenka, Adelheid |m 1076261019:Cerwenka, Adelheid |d 60000 |d 65400 |e 60000PC1076261019 |e 65400PC1076261019 |k 0/60000/ |k 1/60000/65400/ |p 23 | ||
| 998 | |g 1078331979 |a Greil, Johann |m 1078331979:Greil, Johann |d 910000 |d 910500 |d 50000 |e 910000PG1078331979 |e 910500PG1078331979 |e 50000PG1078331979 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 22 | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 20 | ||
| 998 | |g 1022937758 |a Kölker, Stefan |m 1022937758:Kölker, Stefan |d 910000 |d 910500 |d 50000 |e 910000PK1022937758 |e 910500PK1022937758 |e 50000PK1022937758 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 18 | ||
| 998 | |g 1256618594 |a Peters, Bianca |m 1256618594:Peters, Bianca |d 910000 |d 910500 |e 910000PP1256618594 |e 910500PP1256618594 |k 0/910000/ |k 1/910000/910500/ |p 15 | ||
| 998 | |g 138823421 |a Boy, Nikolas |m 138823421:Boy, Nikolas |d 910000 |d 910500 |d 50000 |e 910000PB138823421 |e 910500PB138823421 |e 50000PB138823421 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 7 | ||
| 998 | |g 1171008406 |a Pahl, Jens |m 1171008406:Pahl, Jens |p 2 | ||
| 998 | |g 1047559943 |a Lenz, Dominic |m 1047559943:Lenz, Dominic |d 910000 |d 910500 |e 910000PL1047559943 |e 910500PL1047559943 |k 0/910000/ |k 1/910000/910500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1856777766 |e 4368354338 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"origin":[{"dateIssuedKey":"2021","dateIssuedDisp":"13 August 2021"}],"id":{"doi":["10.1007/s10875-021-01110-7"],"eki":["1856777766"]},"recId":"1856777766","name":{"displayForm":["Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy, Joseph A. Church, Ellen Crushell, Anke Dick, Felix Distelmaier, Jidnyasa Gujar, Giuseppe Indolfi, Eberhard Lurz, Bianca Peters, Tobias Schwerd, Daniele Serranti, Stefan Kölker, Christoph Klein, Georg F. Hoffmann, Holger Prokisch, Johann Greil, Adelheid Cerwenka, Thomas Giese, Christian Staufner"]},"title":[{"title":"NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency","title_sort":"NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency"}],"person":[{"display":"Lenz, Dominic","family":"Lenz","role":"aut","given":"Dominic"},{"display":"Pahl, Jens","family":"Pahl","role":"aut","given":"Jens"},{"display":"Hauck, Fabian","family":"Hauck","role":"aut","given":"Fabian"},{"display":"Alameer, Seham","family":"Alameer","given":"Seham","role":"aut"},{"display":"Balasubramanian, Meena","family":"Balasubramanian","given":"Meena","role":"aut"},{"display":"Baric, Ivo","role":"aut","given":"Ivo","family":"Baric"},{"display":"Boy, Nikolas","role":"aut","given":"Nikolas","family":"Boy"},{"family":"Church","role":"aut","given":"Joseph A.","display":"Church, Joseph A."},{"display":"Crushell, Ellen","family":"Crushell","role":"aut","given":"Ellen"},{"display":"Dick, Anke","role":"aut","given":"Anke","family":"Dick"},{"family":"Distelmaier","role":"aut","given":"Felix","display":"Distelmaier, Felix"},{"family":"Gujar","given":"Jidnyasa","role":"aut","display":"Gujar, Jidnyasa"},{"family":"Indolfi","given":"Giuseppe","role":"aut","display":"Indolfi, Giuseppe"},{"display":"Lurz, Eberhard","role":"aut","given":"Eberhard","family":"Lurz"},{"role":"aut","given":"Bianca","family":"Peters","display":"Peters, Bianca"},{"display":"Schwerd, Tobias","family":"Schwerd","given":"Tobias","role":"aut"},{"family":"Serranti","role":"aut","given":"Daniele","display":"Serranti, Daniele"},{"given":"Stefan","role":"aut","family":"Kölker","display":"Kölker, Stefan"},{"display":"Klein, Christoph","family":"Klein","given":"Christoph","role":"aut"},{"given":"Georg F.","role":"aut","family":"Hoffmann","display":"Hoffmann, Georg F."},{"display":"Prokisch, Holger","role":"aut","given":"Holger","family":"Prokisch"},{"display":"Greil, Johann","given":"Johann","role":"aut","family":"Greil"},{"family":"Cerwenka","role":"aut","given":"Adelheid","display":"Cerwenka, Adelheid"},{"display":"Giese, Thomas","role":"aut","given":"Thomas","family":"Giese"},{"role":"aut","given":"Christian","family":"Staufner","display":"Staufner, Christian"}],"language":["eng"],"physDesc":[{"extent":"12 S."}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"relHost":[{"part":{"extent":"12","text":"41(2021), 8, Seite 1781-1793","pages":"1781-1793","volume":"41","year":"2021","issue":"8"},"origin":[{"dateIssuedDisp":"1981-","publisher":"Springer Science + Business Media B.V ; Kluwer","dateIssuedKey":"1981","publisherPlace":"Dordrecht [u.a.] ; Dordrecht [u.a.]"}],"id":{"zdb":["2016755-6"],"issn":["1573-2592"],"eki":["320573362"]},"disp":"NBAS variants are associated with quantitative and ualitative NK and B Cell deficiencyJournal of clinical immunology","recId":"320573362","name":{"displayForm":["ed. Sudhir Gupta"]},"title":[{"title":"Journal of clinical immunology","title_sort":"Journal of clinical immunology"}],"language":["eng"],"pubHistory":["1.1981 -"],"physDesc":[{"extent":"Online-Ressource"}],"note":["Gesehen am 24.02.11"],"type":{"bibl":"periodical","media":"Online-Ressource"}}],"note":["Gesehen am 21.08.2023"]} | ||
| SRT | |a LENZDOMININBASVARIAN1320 | ||