Mendelian susceptibility to mycobacterial diseases

General Information (adopted from Orphanet):

Synonyms, Signs: ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED
MSMD BCG INFECTION, GENERALIZED FAMILIAL, INCLUDED
BCG AND SALMONELLA INFECTION, DISSEMINATED, INCLUDED
MYCOBACTERIAL DISEASE, MENDELIAN SUSCEPTIBILITY TO
ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
BCG INFECTION, GENERALIZED FAMILIAL SEMIBENIGN, AUTOSOMAL DOMINANT, INCLUDED
MSMD
Mendelian susceptibility to mycobacterial infections
Idiopathic infection caused by BCG or atypical mycobacteria
Mendelian susceptibility to atypical mycobacteria
Number of Symptoms 7
OrphanetNr: 748
OMIM Id: 209950
ICD-10: D84.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic susceptibility to infections due to particular pathogens
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0005661) Salmonella osteomyelitis 2 / 7739
2
(HPO:0001438) Abnormality of the abdomen 28 / 7739
3
(HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
4
(OMIM) Macrophage defect 1 / 7739
5
(OMIM) 'Intestinal pseudotuberculosis' 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Enteric salmonellosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM Fieschi et al. (2001) found that children with complete IFNGR deficiency, unlike patients with other genetic defects predisposing them to mycobacterial diseases, have very high levels of IFNG in their plasma. Fieschi et al. (2001) proposed this measurement ...
Clinical Description OMIM Families with multiple cases of disseminated atypical mycobacteriosis, a rare disorder, were reported by Engbaek (1964) and Uchiyama et al. (1981). Uchiyama et al. (1981) reported fatal disseminated atypical mycobacteriosis in 2 young Mexican-American girls. The atypical mycobacterium ...
Molecular genetics OMIM - IFNGR1 Deficiency

Newport et al. (1996) and Jouanguy et al. (1996) demonstrated that mutations in the interferon-gamma-receptor-1 gene (107470) conferred susceptibility to mycobacterium infection.

Heyne (2002) noted that the family reported by Heyne ...