Combined immunodeficiency due to Moesin deficiency

Orpha code: 504530OMIM code: 300988

Definicja

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
Klasyfikacja

Disease

Synonimy
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
Kod ORPHA
504530
Kod OMIM
300988
Kod ICD10
D81.8
Kod ICD11
-

No additional description.

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