HIES3
MCID: HYP833
MIFTS: 23

Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive (HIES3)

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

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

MalaCards integrated aliases for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

Name: Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 57 74 29 6
Hies3 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

32
hyper-ige recurrent infection syndrome 3, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D007589

Summaries for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 Hyper-IgE recurrent infection syndrome 3, autosomal recessive: An immunologic disorder characterized by skin bacterial infections in particular with Staphylococcus aureus, susceptibility to fungal infections such as chronic mucocutaneous candidiasis, atopic dermatitis, recurrent respiratory infections, bronchiectasis, and increased serum IgE and IgG. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells. Some patients manifest extrahemapoietic features, including facial dysmorphism, abnormal dentition, alopecia, joint hypermobility and bone fractures. Disease onset is in early childhood.

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive, is also known as hies3. An important gene associated with Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive is ZNF341 (Zinc Finger Protein 341). Affiliated tissues include skin, b cells and nk cells, and related phenotypes are alopecia and joint hypermobility

OMIM : 57 Hyper-IgE recurrent infection syndrome-3 is an autosomal recessive immunologic disorder characterized by childhood onset of atopic dermatitis, skin infections particularly with Staphylococcus aureus, recurrent sinopulmonary infections, and increased serum IgE and IgG. Patients are susceptible to bacterial and fungal infections, including chronic mucocutaneous candidiasis. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells (summary by Beziat et al., 2018). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see HIES1 (147060). (618282)

Related Diseases for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Symptoms & Phenotypes for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 alopecia 32 very rare (1%) HP:0001596
2 joint hypermobility 32 very rare (1%) HP:0001382
3 eosinophilia 32 very rare (1%) HP:0001880
4 high palate 32 HP:0000218
5 recurrent respiratory infections 32 HP:0002205
6 abnormality of the dentition 32 HP:0000164
7 micrognathia 32 HP:0000347
8 pruritus 32 HP:0000989
9 recurrent otitis media 32 HP:0000403
10 chronic mucocutaneous candidiasis 32 HP:0002728
11 wide nose 32 HP:0000445
12 bronchiectasis 32 HP:0002110
13 atopic dermatitis 32 HP:0001047

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
micrognathia
coarse or dysmorphic facial features, mild (in some patients)

Skin Nails Hair Skin:
eczema
atopic dermatitis
pruritis
staphylococcus aureus infections
skin infections
more
Respiratory Lung:
bronchiectasis

Head And Neck Teeth:
abnormal dentition
impaired dental growth

Head And Neck Ears:
otitis media, recurrent

Skeletal:
joint hypermobility (in some patients)
bone fractures (in some patients)

Skin Nails Hair Nails:
candidal infections

Immunology:
recurrent infections
chronic mucocutaneous candidiasis
decreased nk cells
increased igg
increased ige
more
Head And Neck Nose:
wide nose

Head And Neck Mouth:
high-arched palate
oral thrush

Respiratory:
respiratory infections, recurrent

Skin Nails Hair Hair:
alopecia (in some patients)

Neurologic Central Nervous System:
impaired intellectual development (in some patients)

Clinical features from OMIM:

618282

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Genetic tests related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 29 ZNF341

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

41
Skin, B Cells, Nk Cells, T Cells, Bone

Publications for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Articles related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

# Title Authors PMID Year
1
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. 8 71
29907691 2018
2
ZNF341 controls STAT3 expression and thereby immunocompetence. 8 71
29907690 2018

Variations for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZNF341 NM_001282933.2(ZNF341): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic 20:32345116-32345116 20:33757310-33757310
2 ZNF341 NM_001282933.2(ZNF341): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic 20:32349795-32349795 20:33761989-33761989
3 ZNF341 NM_001282933.2(ZNF341): c.1083del (p.Lys362fs) deletion Pathogenic 20:32349722-32349722 20:33761916-33761916
4 ZNF341 NM_001282933.2(ZNF341): c.1647C> G (p.Tyr549Ter) single nucleotide variant Pathogenic 20:32369121-32369121 20:33781315-33781315
5 ZNF341 NM_001282933.2(ZNF341): c.583C> T (p.Gln195Ter) single nucleotide variant Pathogenic 20:32341071-32341071 20:33753265-33753265

Expression for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive.

Pathways for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

GO Terms for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Sources for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....