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GTR Home > Conditions/Phenotypes > Combined immunodeficiency due to GINS1 deficiency

Combined immunodeficiency due to GINS1 deficiency

Synonyms
IMMUNODEFICIENCY 55
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017). [from OMIM]

Available tests

8 tests are in the database for this condition.

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Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD55, PSF1, GINS1
    Summary: GINS complex subunit 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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