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Metadata
ID DOID:0112001
Name immunodeficiency 50
Definition A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.
https://pubmed.ncbi.nlm.nih.gov/27405666/
Xrefs

OMIM:300988

ORDO:504530

Subsets

DO_rare_slim

Synonyms

CID due to Moesin deficiency [EXACT]

combined immunodeficiency due to Moesin deficiency [EXACT]

IMD50 [EXACT]

immunodeficiency 50 X linked recessive [EXACT]

MSN-related combined immunodeficiency [EXACT]

X-linked Moesin-associated immunodeficiency [EXACT]

Parent Relationships

is_a combined immunodeficiency

is_a X-linked recessive disease

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