Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia (IMD73B)

External Ids:

Disease Ontology 12 DOID:0112061 OMIM® 57 618986

OMIM Phenotypic Series 57 PS300755 SNOMED-CT via HPO 68 12295008 123785006 127034005 128045006 128601007 128936008 13645005 165517008 165539005 190981001 19471005 195788001 263681008 274741002 36760000 385627004 51615001 63480004 699014000 84828003 more

OMIM® : ⁵⁷ Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by Hsu et al., 2019; review by Lougaris et al., 2020). (618986) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia, is also known as imd73b. An important gene associated with Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia is RAC2 (Rac Family Small GTPase 2). Affiliated tissues include neutrophil, nk cells and t cells, and related phenotypes are recurrent respiratory infections and recurrent otitis media

Disease Ontology : ¹² A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has material basis in heterozygous gain-of-function mutation in RAC2 on chromosome 22q13.1.

Clinical features from OMIM®:

618986 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia

Search GEO for disease gene expression data for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia.