Hyper-IgE syndrome (Version 2.0)

Description

This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.

Panel Activity

4 reviewers

Zornitza Stark (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Danielle Ariti (University of Melbourne)
Peter McNaughton (Queensland Children's Hospital)

14 Entities

14 reviewed, 10 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 14 Entitiess
Green Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700 T cell Lymphopaenia decraese T/B/NK cells Eosinophilia low IgM elevated IgE recurrent cutaneous/ viral/ bacterial/ fungal/ infections severe atopy/allergic disease autoimmune haemolytic anaemia eczema cancer diathesis Tags treatable
Green Green List (high evidence)	DSG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE MIM#615508 Tags
Green Green List (high evidence)	IL6ST	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyper-IgE recurrent infection syndrome 4A, autosomal dominant , MIM#619752 Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523 Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green Green List (high evidence)	SPINK5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Netherton syndrome, MIM# 256500 Tags
Green Green List (high evidence)	STAT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome MIM# 147060 NKT cells decreased Very high IgE, specific antibody production decreased Distinctive facial features (broad nasal bridge) bacterial infections staphylococcal abscesses eczema mucocutaneous candidiasis hyperextensible joints osteoporosis and bone fractures scoliosis retained primary teeth coronary and cerebral aneurysms Tags
Green Green List (high evidence)	TYK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 35, MIM# 611521 Tags
Green Green List (high evidence)	WAS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Thrombocytopaenia, X-linked, MIM# 313900 Tags
Green Green List (high evidence)	WIPF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Wiskott-Aldrich syndrome 2 MIM# 614493 Reduced T cells defective lymphocyte responses to anti-CD3 high IgE Thrombocytopenia with or without small platelets recurrent bacterial and viral Infections eczema bloody diarrhoea gastrointestinal bleeding WAS protein absent Tags
Green Green List (high evidence)	ZNF341	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282 Mild facial dysmorphism Early onset eczema Recurrent bacterial skin infections, abscesses Recurrent respiratory infections, lung abscesses and pneumothoraces Hyperextensible joints, bone fractures, retention of primary teeth Tags
Red Red List (low evidence)	ERCC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 1, photosensitive, MIM# 601675 Xeroderma pigmentosum, group D 27, MIM#8730 Tags
Red Red List (low evidence)	ERCC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 2, photosensitive, MIM# 616390 Xeroderma pigmentosum, group B 61, MIM#0651 Tags
Red Red List (low evidence)	GTF2H5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395 Tags
Red Red List (low evidence)	NFKBID	1 review 1 red	Unknown	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags

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