Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency(IMD42)

MedGen UID:: 1799070
•Concept ID:: C5567647
•: Disease or Syndrome

Synonym:	Immunodeficiency 42
SNOMED CT:	Autosomal recessive primary immunodeficiency due to RORC mutation (1172892009); Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation (1172892009); Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (1172892009); Autosomal recessive MSMD (mendelian susceptibility to mycobacterial disease) due to complete RORgamma receptor mutation (1172892009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	RORC (1q21.3)

Monarch Initiative:	MONDO:0014710
OMIM®:	616622
Orphanet:	ORPHA477857

Definition

Immunodeficiency-42 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy. Patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections (summary by Okada et al., 2015). [from OMIM]

Clinical features

From HPO

Hepatomegaly

MedGen UID:: 42428
•Concept ID:: C0019209
•: Finding

Abnormally increased size of the liver.

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Splenomegaly

MedGen UID:: 52469
•Concept ID:: C0038002
•: Finding

Abnormal increased size of the spleen.

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Hypoplasia of the thymus

MedGen UID:: 146347
•Concept ID:: C0685891
•: Congenital Abnormality

Underdevelopment of the thymus.

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BCGosis

MedGen UID:: 823215
•Concept ID:: C3830467
•: Disease or Syndrome

Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.

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Recurrent cutaneous fungal infections

MedGen UID:: 868980
•Concept ID:: C4023394
•: Finding

Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.

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Chronic oral candidiasis

MedGen UID:: 870166
•Concept ID:: C4024599
•: Disease or Syndrome

Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.

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Recurrent aphthous stomatitis

MedGen UID:: 445425
•Concept ID:: C2937365
•: Disease or Syndrome

Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.

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