MOLECULAR STUDY HIPER IGE SYNDROME (DOCK8) MLPA, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4339

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES), but other features such as persistent cutaneous viral infections are unique to AR-HIES. In addition to the clinical triad, AR-HIES includes extreme hypereosinophilia, susceptibility to viral infections such as herpes simplex and herpes zoster, molluscum contagiosum and human papillomavirus, which are extensive, difficult to control and mutilating, and a severe dermatitis that may often be superinfected with S. aureus or, in less frequent cases, with herpes simplex (eczema herpeticum). Other clinical features such as involvement of the central nervous system (facial paralysis, hemiplegia, ischemic infarction, and subarachnoid hemorrhage), autoimmune effects, and vascular disorders are variably associated. Poor growth and failure to thrive appears to be common. Unlike AD-HIES, 50-70% of patients develop severe allergies, including anaphylaxis to food and environmental antigens, and about 30% have asthma. Although eosinophilia is a common finding in both AD- and AR-HIES, it tends to be more severe in the AR variant. The dental, skeletal and connective tissue anomalies, as well as the characteristic facies and pneumatoceles which are present in AD-HIES are rarely seen in AR-HIES. There is an increase risk of malignancies. Homozygous mutations of the dedicator of the cytokinesis 8 DOCK8 (9p24.3) gene are responsible for many, although not all, cases. DOCK8 deficiency appears to impair CD4+and CD8+T-cell proliferative responses, as well as B- and T-cell memory. Due to the great variety of clinical features of DOCK8 deficiency, early diagnosis can be challenging and genetic testing may be essential. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in the family is known. AR-HIES follows autosomal recessive transmission and is more common in consanguineous families.

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