Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency(IMD38)

MedGen UID:: 863730
•Concept ID:: C4015293
•: Disease or Syndrome

Synonyms:	Immunodeficiency 38; Immunodeficiency 38 with basal ganglia calcification; IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE
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.	ISG15 (1p36.33)

Monarch Initiative:	MONDO:0014502
OMIM®:	616126
Orphanet:	ORPHA319563

Definition

IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines (Bogunovic et al., 2012). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification (Zhang et al., 2015). [from OMIM]

Clinical features

From HPO

Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Neurodevelopmental abnormality

MedGen UID:: 868343
•Concept ID:: C4022737
•: Pathologic Function

A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.

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Basal ganglia calcification

MedGen UID:: 234651
•Concept ID:: C1389280
•: Pathologic Function

The presence of calcium deposition affecting one or more structures of the basal ganglia.

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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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Lymphadenopathy