HIES3
MCID: HYP833
MIFTS: 22

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 58 76 6
Hies3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 joint hypermobility and eosinophilia

OMIM : 58 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

Diseases in the Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant family:

Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 joint hypermobility 33 very rare (1%) HP:0001382
2 eosinophilia 33 very rare (1%) HP:0001880
3 high palate 33 HP:0000218
4 abnormality of the dentition 33 HP:0000164
5 micrognathia 33 HP:0000347
6 pruritus 33 HP:0000989
7 chronic mucocutaneous candidiasis 33 HP:0002728
8 atopic dermatitis 33 HP:0001047

Symptoms via clinical synopsis from OMIM:

58
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

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

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

42
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 Year
1
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. ( 29907691 )
2018
2
ZNF341 controls STAT3 expression and thereby immunocompetence. ( 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 Assembly Location
1 ZNF341 NM_001282933.2(ZNF341): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 32345116: 32345116
2 ZNF341 NM_001282933.2(ZNF341): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 33757310: 33757310
3 ZNF341 NM_001282933.2(ZNF341): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 32349795: 32349795
4 ZNF341 NM_001282933.2(ZNF341): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 33761989: 33761989
5 ZNF341 NM_001282933.2(ZNF341): c.1083del (p.Lys362Serfs) deletion Pathogenic GRCh38 Chromosome 20, 33761916: 33761916
6 ZNF341 NM_001282933.2(ZNF341): c.1083del (p.Lys362Serfs) deletion Pathogenic GRCh37 Chromosome 20, 32349722: 32349722
7 ZNF341 NM_001282933.2(ZNF341): c.1647C> G (p.Tyr549Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 32369121: 32369121
8 ZNF341 NM_001282933.2(ZNF341): c.1647C> G (p.Tyr549Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 33781315: 33781315
9 ZNF341 NM_001282933.2(ZNF341): c.583C> T (p.Gln195Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 33753265: 33753265
10 ZNF341 NM_001282933.2(ZNF341): c.583C> T (p.Gln195Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 32341071: 32341071

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

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