Immunodeficiency 27a (IMD27A)

External Ids:

OMIM 58 209950 MeSH 45 D009165 MESH via Orphanet 46 C535530 ICD10 via Orphanet 35 D84.8 UMLS via Orphanet 75 C2930924

Orphanet 60 ORPHA319569 ORPHA99898 MedGen 43 C0694566 C3266863 C4011949 SNOMED-CT via HPO 70 111583006 119247004 161832001 16294009 165397008 165468009 165839004 233604007 258211005 262285001 267060006 271737000 30746006 36760000 386661006 415115007 42984000 50177009 60657004 62315008 65396000 6631009 6803002 79890006 89362005 more UMLS 74 C4011949 C4048456

OMIM : ⁵⁸ 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 lymph node, and related phenotypes are splenomegaly and fever

UniProtKB/Swiss-Prot : ⁷⁶ 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.