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GTR Home > Conditions/Phenotypes > T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ severe combined immunodeficiency due to JAK3 deficiency

Synonyms
SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE; SCID, autosomal recessive, T-negative/B-positive type; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood. [from MedlinePlus Genetics]

Available tests

33 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK, JAK3
    Summary: Janus kinase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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