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Susceptibility to respiratory infections associated with CD8alpha chain mutation(IMD116)

MedGen UID:: 323058
•Concept ID:: C1837065
•: Disease or Syndrome

Synonyms:	Cd8 deficiency, familial; IMD116; IMMUNODEFICIENCY 116
SNOMED CT:	Familial CD8 deficiency (766983005); Susceptibility to respiratory infection associated with CD8alpha chain mutation (766983005)
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.	CD8A (2p11.2)

Monarch Initiative:	MONDO:0012161
OMIM®:	608957
Orphanet:	ORPHA169085

Definition

Immunodeficiency-116 (IMD116) is an autosomal recessive immunologic disorder characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood. Laboratory studies show absence of CD8+ T cells, whereas other lymphocyte numbers and immunoglobulin levels are normal (Dumontet et al., 2015). [from OMIM]

Clinical features

From HPO

Bronchiectasis

MedGen UID:: 14234
•Concept ID:: C0006267
•: Disease or Syndrome

Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.

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Recurrent respiratory infections

MedGen UID:: 812812
•Concept ID:: C3806482
•: Finding

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

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Recurrent viral infections

MedGen UID:: 332357
•Concept ID:: C1837066
•: Finding

Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.

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Recurrent bacterial infections

MedGen UID:: 334943
•Concept ID:: C1844383
•: Finding

Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.

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Absence of CD8-positive T cells

MedGen UID:: 870742
•Concept ID:: C4025197
•: Finding

Lack of detectible CD8-positive T cells

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Abnormality of the immune system
Abnormality of the respiratory system
- Bronchiectasis
- Recurrent respiratory infections

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSusceptibility to respiratory infections associated with CD8alpha chain mutation

Non-SCID combined immunodeficiency
- Susceptibility to respiratory infections associated with CD8alpha chain mutation

Follow this link to review classifications for Susceptibility to respiratory infections associated with CD8alpha chain mutation in Orphanet.

Recent clinical studies

Diagnosis

Recurrent Respiratory Infections Revealing CD8α Deficiency.

Dumontet E, Osman J, Guillemont-Lambert N, Cros G, Moshous D, Picard C
J Clin Immunol 2015 Nov;35(8):692-5. Epub 2015 Nov 12 doi: 10.1007/s10875-015-0213-x. PMID: 26563160

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Clinical prediction guides

Recurrent Respiratory Infections Revealing CD8α Deficiency.

Dumontet E, Osman J, Guillemont-Lambert N, Cros G, Moshous D, Picard C
J Clin Immunol 2015 Nov;35(8):692-5. Epub 2015 Nov 12 doi: 10.1007/s10875-015-0213-x. PMID: 26563160

See all (1)

MedGen

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Susceptibility to respiratory infections associated with CD8alpha chain mutation(IMD116)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

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Molecular resources

Consumer resources

Reviews

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