Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency(IMD32A)

MedGen UID:: 814919
•Concept ID:: C3808589
•: Disease or Syndrome

Synonyms:	Immunodeficiency 32a; IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT; IRF8 DEFICIENCY, AUTOSOMAL DOMINANT
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	IRF8 (16q24.1)

Monarch Initiative:	MONDO:0013957
OMIM®:	614893
Orphanet:	ORPHA319600

Definition

Autosomal dominant IRF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340)-positive dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011). [from OMIM]

Clinical features

From HPO

Granuloma

MedGen UID:: 5376
•Concept ID:: C0018188
•: Pathologic Function

A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.

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Immunodeficiency

MedGen UID:: 7034
•Concept ID:: C0021051
•: Disease or Syndrome

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

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Lymphadenitis