Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia (IMD73C)

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Disease Ontology 12 DOID:0112062 OMIM® 57 618987

OMIM Phenotypic Series 57 PS300755 SNOMED-CT via HPO 68 123785006 126485001 190981001 247472004 258211005 64305001 more

Disease Ontology : ¹² A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has material basis in homozygous or compound heterozygous mutation in RAC2 on chromosome 22q12.

MalaCards based summary : Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia, is also known as imd73c. An important gene associated with Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia is RAC2 (Rac Family Small GTPase 2). Affiliated tissues include neutrophil and b cells, and related phenotypes are recurrent respiratory infections and failure to thrive in infancy

More information from OMIM: 618987 PS300755

Clinical features from OMIM®:

618987 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia

Search GEO for disease gene expression data for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia.