BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
Journal of clinical immunology. - 44, 1 (2024) , 37, ISSN: 1573-2592
- Event
-
Veröffentlichung
- (where)
-
Freiburg
- (who)
-
Universität
- (when)
-
2024
- Creator
- DOI
-
10.1007/s10875-023-01646-w
- URN
-
urn:nbn:de:bsz:25-freidok-2427811
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
25.03.2025, 1:41 PM CET
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Salou, Sarah
- Völkl, Simon
- Keller, Bärbel
- Ehl, Stephan
- Naumann-Bartsch, Nora
- Universität
Time of origin
- 2024
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Presenting
A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency
Escaping hell in Treblinka
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Methionine adenosyltransferase I/III deficiency detected by newborn screening
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency
Escaping jurisdictional blackholes
Escaping unemployment traps
Escaping Nash inflation
Escaping Nazi atrocities
Presenting
A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency
Escaping hell in Treblinka