HIES3
MCID: HYP833
MIFTS: 24
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Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive (HIES3)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:Characteristics: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 |
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) |
Diseases in the Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant family: |
Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618282 |
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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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Articles related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:
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ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:6
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for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive.
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