A novel mutation of adenosine deaminase causing SCID presenting as hemophagocytic lymphohistiocytosis with acute kidney injury

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	British journal of haematology 2020-11, Vol.191 (3), p.509-512
Hauptverfasser:	Chidambaram, Aakash C., Maulik, Kaushik, Ramamoorthy, Jaikumar G., Parameswaran, Narayanan
Format:	Artikel
Sprache:	eng
Schlagworte:	acute kidney injury (AKI) Acute Kidney Injury - diagnosis Acute Kidney Injury - etiology ADA Adenosine Adenosine deaminase Adenosine Deaminase - genetics Biomarkers Consanguinity Diagnosis, Differential exon 11 Female Genetic Association Studies Genetic Predisposition to Disease Hematology hemophagocytic lymphohistiocytosis (HLH) Histiocytosis Humans immunodeficiency Infant Lymphocytosis Lymphohistiocytosis, Hemophagocytic - diagnosis Lymphohistiocytosis, Hemophagocytic - etiology Mutation Pedigree Phenotype SCID Severe Combined Immunodeficiency - complications Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!