HIES5
MCID: HYP871
MIFTS: 20

Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive (HIES5)

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

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

MalaCards integrated aliases for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive:

Name: Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive 57 72 29 6
Hies5 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
two unrelated patients have been reported (last curated july 2020)


HPO:

31
hyper-ige recurrent infection syndrome 5, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 618944
OMIM Phenotypic Series 57 PS147060
MeSH 44 D007589

Summaries for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

OMIM® : 57 Autosomal recessive hyper-IgE recurrent infection syndrome-5 (HEIS5) is an immunologic disorder characterized by onset of recurrent sinopulmonary and deep skin infections in early childhood. The infections are mostly caused by bacteria, including H. influenza and Staphylococcus aureus. Additional features include atopic dermatitis, impaired inflammatory responses during infection, increased serum IgE, and increased IL6 (147620) (summary by Spencer et al., 2019). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see HIES1 (147060). (618944) (Updated 05-Apr-2021)

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive, is also known as hies5. An important gene associated with Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive is IL6R (Interleukin 6 Receptor). Affiliated tissues include b cells and t cells, and related phenotypes are cellulitis and decreased circulating igg level

UniProtKB/Swiss-Prot : 72 Hyper-IgE recurrent infection syndrome 5, autosomal recessive: An immunologic disorder characterized by recurrent sinopulmonary and deep skin infections, mostly caused by bacteria, including H. influenza and Staphylococcus aureus. Additional features include asthma, atopic dermatitis, and impaired inflammatory responses during infection. Disease onset is in early infancy.

Related Diseases for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

Symptoms & Phenotypes for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cellulitis 31 very rare (1%) HP:0100658
2 decreased circulating igg level 31 very rare (1%) HP:0004315
3 decreased circulating total igm 31 very rare (1%) HP:0002850
4 atopic dermatitis 31 very rare (1%) HP:0001047
5 increased circulating ige level 31 very rare (1%) HP:0003212
6 increased circulating interleukin 6 31 very rare (1%) HP:0030783
7 recurrent upper respiratory tract infections 31 HP:0002788
8 recurrent otitis media 31 HP:0000403
9 recurrent skin infections 31 HP:0001581
10 cutaneous abscess 31 HP:0031292
11 decreased proportion of class-switched memory b cells 31 HP:0030388
12 reduced c-reactive protein level 31 HP:0032437
13 inappropriate absence of fever 31 HP:0033104

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
cellulitis

Immunology:
recurrent infections
increased serum ige
decreased memory b cells
hypogammaglobulinemia, mild
increased atopic helper t cells
more
Skin Nails Hair Skin:
recurrent skin infections
atopic dermatitis
deep skin abscesses

Head And Neck Ears:
otitis media

Respiratory:
recurrent sinopulmonary infections

Metabolic Features:
inappropriate absence of fever

Clinical features from OMIM®:

618944 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

Genetic tests related to Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive 29 IL6R

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive:

40
B Cells, T Cells

Publications for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

Articles related to Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive:

# Title Authors PMID Year
1
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. 57 6
31235509 2019

Variations for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL6R NM_000565.4(IL6R):c.548del (p.Gly183fs) Deletion Pathogenic 973502 GRCh37: 1:154407082-154407082
GRCh38: 1:154434606-154434606
2 IL6R NM_000565.4(IL6R):c.836T>A (p.Ile279Asn) SNV Pathogenic 973503 GRCh37: 1:154408473-154408473
GRCh38: 1:154435997-154435997

Expression for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive.

Pathways for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

GO Terms for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

Sources for Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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