Immunodeficiency 27a (IMD27A)

External Ids:

OMIM 57 209950 Orphanet 59 ORPHA319569 ORPHA99898 ICD10 via Orphanet 34 D84.8 MESH via Orphanet 45 C535530 UMLS via Orphanet 74 C2930924

MedGen 42 C4011949 C0694566 C3266863 MeSH 44 D009165 SNOMED-CT via HPO 69 258211005 36760000 16294009 161832001 262285001 89362005 415115007 6631009 165397008 271737000 386661006 50177009 111583006 267060006 62315008 79890006 233604007 30746006 165839004 119247004 165468009 6803002 42984000 60657004 65396000 more UMLS 73 C4011949 C4048456

OMIM : ⁵⁷ Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (147570), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008). (209950)

MalaCards based summary : Immunodeficiency 27a, also known as imd27a, is related to immunodeficiency 34 and immunodeficiency 28. An important gene associated with Immunodeficiency 27a is IFNGR1 (Interferon Gamma Receptor 1). Affiliated tissues include lung and lymph node, and related phenotypes are splenomegaly and fever

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency 27A: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas.

Clinical features from OMIM:

209950

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 27a

Search GEO for disease gene expression data for Immunodeficiency 27a.