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GTR Home > Conditions/Phenotypes > Reticular dysgenesis

Reticular dysgenesis

Synonyms
ALEUKOCYTOSIS; Congenital aleukia; DeVaal disease; HEMATOPOIETIC HYPOPLASIA, GENERALIZED; RETICULAR DYSGENESIA; Severe combined immunodeficiency with leukopenia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Reticular dysgenesis, the most severe form of inborn severe combined immunodeficiency (SCID), is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth (summary by Pannicke et al., 2009). [from OMIM]

Available tests

36 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADK2, AK2
    Summary: adenylate kinase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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