Autosomal Recessive Hyper Ige Syndrome malady

NIH Rare Diseases: Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with less than 10 affected families reported so far. In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES. AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene.³⁰

MalaCards: Autosomal Recessive Hyper Ige Syndrome, also known as hies autosomal recessive, is related to hyper-ige syndrome and combined immunodeficiency. An important gene associated with Autosomal Recessive Hyper Ige Syndrome is TYK2 (tyrosine kinase 2). Affiliated tissues include skin and t cells.

OMIM: 243700

autosomal recessive hyper ige syndrome 30 16 hies autosomal recessive 30 16 hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive 30 hyper-ige recurrent infection syndrome, autosomal recessive 33 autosomal recessive hyper ige recurrent infection syndrome 16 hyper-immunoglobulin e syndrome, autosomal recessive 43

hyper ig e syndrome, autosomal recessive 30 ar hyperimmunoglobulin e syndrome 30 dock8 deficiency 30 job's syndrome 43 ar-hies 30

Diseases related to autosomal recessive hyper ige syndrome by text searches and GeneDecks gene sharing:

(show all 11)

id	Related Disease	Score	Top Affiliating Genes
1	hyper-ige syndrome	29.4	DOCK8, TYK2
2	combined immunodeficiency	12.1	DOCK8, TYK2
3	job's syndrome	10.0
4	adenocarcinoma	6.6
5	hodgkin's lymphoma	6.6
6	hernia	6.6
7	immunodeficiency	6.6
8	non-hodgkin lymphoma	6.6
9	peripheral t-cell lymphoma	6.6
10	crohn's disease	5.4
11	ulcerative colitis	5.4

Clinical features from OMIM: 243700

Approved drugs:

Drug clinical trials:

Genetic tests related to autosomal recessive hyper ige syndrome:

id	Genetic test	Affiliating Genes
1	Autosomal Recessive Hyper Ige Syndrome clinical/research	DOCK8

MalaCards organs/tissues related to autosomal recessive hyper ige syndrome:

²²

Articles related to autosomal recessive hyper ige syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. (21763205)	Dasouki M.... Chatila T.	2011	DOCK8

Genes related to autosomal recessive hyper ige syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TYK2	tyrosine kinase 2	11.0
2	DOCK8	dedicator of cytokinesis 8	11.0	Publications