Combined immunodeficiency due to Moesin deficiency


Engelsk navn: Combined immunodeficiency due to Moesin deficiency
Engelske synonym: CID due to Moesin deficiency,MSN-related combined immunodeficiency,X-linked Moesin-associated immunodeficiency


Definisjon

A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.

Fra Orphanet

ORPHA: 504530
Klassifiseringsnivå: Disorder
ICD-10: D81.8

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