HIES4
MCID: HYP845
MIFTS: 16

Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive (HIES4)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

MalaCards integrated aliases for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive:

Name: Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive 56 73 6
Hies4 56 73

Classifications:



External Ids:

OMIM 56 618523
OMIM Phenotypic Series 56 PS147060
MeSH 43 D007589
MedGen 41 CN262171

Summaries for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

OMIM : 56 Hyper-IgE recurrent infection syndrome-4 (HIES4) is an autosomal recessive immunologic disorder characterized by early childhood onset of recurrent infections and skeletal abnormalities, including craniosynostosis and scoliosis. Patients are susceptible to infections, mainly 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 recurrent infection syndrome, see HIES1 (147060). (618523)

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive, is also known as hies4. An important gene associated with Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive is IL6ST (Interleukin 6 Signal Transducer). Affiliated tissues include skin, t cells and eye.

UniProtKB/Swiss-Prot : 73 Hyper-IgE recurrent infection syndrome 4, autosomal recessive: An immunologic disorder characterized by recurrent infections, mainly affecting the respiratory tract, skin and eye, and skeletal abnormalities including craniosynostosis and scoliosis. Immunologic workup shows increased serum IgE, intermittent eosinophilia, impaired development of certain B- and T-cell populations, as well as impaired acute-phase response. Disease onset is in early childhood.

Related Diseases for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

Symptoms & Phenotypes for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

Clinical features from OMIM:

618523

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive:

40
Skin, T Cells, Eye, Bone

Publications for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

Articles related to Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive:

# Title Authors PMID Year
1
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function. 56 6
30309848 2019
2
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. 56 6
28747427 2017

Variations for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL6ST NM_002184.4(IL6ST):c.1210A>T (p.Asn404Tyr)SNV Pathogenic 638565 5:55251910-55251910 5:55956082-55956082
2 IL6ST NM_002184.4(IL6ST):c.1493C>T (p.Pro498Leu)SNV Pathogenic 638566 5:55248137-55248137 5:55952309-55952309

Expression for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive.

Pathways for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

GO Terms for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

Sources for Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

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