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Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment

Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:J Clin Immunol
Hauptverfasser: Collins, Cathleen, Sharpe, Emily, Silber, Abigail, Kulke, Sarah, Hsieh, Elena W. Y.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer US 2021
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8249278/
https://ncbi.nlm.nih.gov/pubmed/33987750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-021-01059-7
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