Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ⁵⁶ ⁷³ ²⁹ ⁶

Hies3 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Immune diseases Blood diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618282

OMIM Phenotypic Series ⁵⁶ PS147060

MeSH ⁴³ D007589

MedGen ⁴¹ C4748969 CN258118

SNOMED-CT via HPO ⁶⁸ 12295008 200775004 234568006 more

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

UniProtKB/Swiss-Prot : ⁷³ 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, nk cells and b cells, and related phenotypes are alopecia and joint hypermobility

OMIM : ⁵⁶ 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)

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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
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive	Hyper Ige Recurrent Infection Syndrome 2
Hyper Ige Recurrent Infection Syndrome 3	Hyper Ige Recurrent Infection Syndrome 4
Hyper Ige Recurrent Infection Syndrome 1

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

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

³¹ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	alopecia ³¹	very rare (1%)	HP:0001596
2	joint hypermobility ³¹	very rare (1%)	HP:0001382
3	eosinophilia ³¹	very rare (1%)	HP:0001880
4	recurrent respiratory infections ³¹		HP:0002205
5	abnormality of the dentition ³¹		HP:0000164
6	pruritus ³¹		HP:0000989
7	high palate ³¹		HP:0000218
8	micrognathia ³¹		HP:0000347
9	recurrent otitis media ³¹		HP:0000403
10	wide nose ³¹		HP:0000445
11	bronchiectasis ³¹		HP:0002110
12	chronic mucocutaneous candidiasis ³¹		HP:0002728
13	atopic dermatitis ³¹		HP:0001047

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Head And Neck Nose:
wide nose

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

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

Immunology:
recurrent infections
chronic mucocutaneous candidiasis
decreased nk cells
increased igg
increased ige
more

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

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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

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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

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

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

⁴⁰

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

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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	ZNF341 controls STAT3 expression and thereby immunocompetence. ⁶ ⁵⁶	Frey-Jakobs S...Grimbacher B	29907690	2018
2	A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. ⁵⁶ ⁶	Beziat V...Casanova JL	29907691	2018

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

Genes related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ZNF341	Zinc Finger Protein 341	Protein Coding	1019.01	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	29907690 29907691

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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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ZNF341	NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter)	SNV	Pathogenic	599410	rs746141726	20:32345116-32345116	20:33757310-33757310
2	ZNF341	NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter)	SNV	Pathogenic	599411	rs982121798	20:32349795-32349795	20:33761989-33761989
3	ZNF341	NM_001282933.2(ZNF341):c.1083del (p.Lys362fs)	deletion	Pathogenic	599412	rs1568945329	20:32349722-32349722	20:33761916-33761916
4	ZNF341	NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter)	SNV	Pathogenic	599413	rs376598954	20:32369121-32369121	20:33781315-33781315
5	ZNF341	NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter)	SNV	Pathogenic	599414	rs1568940507	20:32341071-32341071	20:33753265-33753265

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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.

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

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

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

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

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

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

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

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

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

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

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

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

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

Genes related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive (1 elite genes):

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

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

Expression 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