U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Hyper-IgE recurrent infection syndrome 4, autosomal recessive

Hyper-IgE recurrent infection syndrome 4, autosomal recessive

Synonyms
HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME 4B, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS

Summary

Hyper-IgE syndrome-4B with recurrent infections (HIES4B) is an autosomal recessive immunologic disorder characterized by early childhood onset of recurrent infections and skeletal abnormalities, including craniosynostosis and scoliosis. Patients are mainly susceptible to bacterial infections that affect the respiratory tract, skin, and eye. Immunologic workup shows increased serum IgE, intermittent eosinophilia, and impaired IL6 (147620) and IL27 (608273) downstream signaling that affects the development and function of certain B- and T-cell populations, as well as the acute-phase response; IL11 (147681) signaling in fibroblasts is also affected (summary by Shahin et al., 2019). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD130, CDW130, GP130, HIES4, HIES4A, HIES4B, IL-6RB, IMD94, STWS2, sGP130, IL6ST
    Summary: interleukin 6 cytokine family signal transducer

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.