Combined immunodeficiency due to Moesin deficiency

Orpha code: 504530OMIM code: 300988

Definition

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.

Disease data
Classification

Disease

Synonyms
CID due to Moesin deficiency
MSN-related combined immunodeficiency
X-linked Moesin-associated immunodeficiency
CID due to Moesin deficiency
MSN-related combined immunodeficiency
X-linked Moesin-associated immunodeficiency
ORPHA code
504530
OMIM code
300988
ICD10 code
D81.8
ICD11 code
-

No additional description.

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