Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 1 |
2019 | 5 |
2020 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
Page 1
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738.
Blood. 2020.
PMID: 32603431
Free PMC article.
Clinical Trial.
The nature of human IL-6.
Puel A, Casanova JL.
Puel A, et al.
J Exp Med. 2019 Sep 2;216(9):1969-1971. doi: 10.1084/jem.20191002. Epub 2019 Jun 24.
J Exp Med. 2019.
PMID: 31235508
Free PMC article.
Item in Clipboard
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K.
Haimel M, et al.
J Allergy Clin Immunol. 2022 Jan;149(1):369-378. doi: 10.1016/j.jaci.2021.04.033. Epub 2021 May 12.
J Allergy Clin Immunol. 2022.
PMID: 33991581
Free PMC article.
Item in Clipboard
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, Wilkie AOM, Tezcan I, Uhlig HH, Boztug K.
Shahin T, et al.
Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11.
Haematologica. 2019.
PMID: 30309848
Free PMC article.
Item in Clipboard
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.
Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Yüce Petronczki Ö, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.
Serwas NK, et al.
Nat Commun. 2019 Jul 15;10(1):3106. doi: 10.1038/s41467-019-10812-x.
Nat Commun. 2019.
PMID: 31308374
Free PMC article.
Item in Clipboard
Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.
Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Petronczki ÖY, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.
Serwas NK, et al.
Nat Commun. 2019 Oct 2;10(1):4555. doi: 10.1038/s41467-019-12454-5.
Nat Commun. 2019.
PMID: 31578334
Free PMC article.
Item in Clipboard
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED.
Spencer S, et al.
J Exp Med. 2019 Sep 2;216(9):1986-1998. doi: 10.1084/jem.20190344. Epub 2019 Jun 24.
J Exp Med. 2019.
PMID: 31235509
Free PMC article.
Item in Clipboard
Cite
Cite