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Hyper IgE Syndrome

Hyper-Hiker with (IgE) Electric Globulin-Goblin
Picmonic

Hyper IgE immunodeficiency is a congenital T –cell immunodeficiency characterized by facial changes, recurrent abscesses, retained teeth, skin changes and elevated immunoglobulin E.  The disease manifestations are largely attributed to the body’s inability to mount an appropriate immune response due to poor INF-gamma production and subsequent loss of its chemotactic properties.  

 

8 KEY FACTS
PATHOPHYSIOLOGY
Job's Syndrome
JOB-briefcase

Hyper IgE syndrome is also called Job's syndrome.

Abnormal Chemotaxis
Chemical-taxi

T cells lack the ability to signal other immune cells resulting in abnormal chemotaxis due to a deficiency in IFN-gamma production.

Decreased IFN Gamma
Down-arrow Grandma with IFN-ray-gun

T cells lack the ability to signal other immune cells due to a deficiency in IFN gamma production. In addition to promoting TH1 differentiation, IFN-gamma promotes adhesion and binding required for leukocyte migration.

SIGNS AND SYMPTOMS
Leonine Facies
Lion face

Leonine facies is a descriptive term used for a deeply furrowed ‘lumpy' face with prominent supercilliary arches that is seen in Hyper IgE syndrome.

Cold Non-Inflamed Staph Aureus Abscesses
Cold Abscess guy with Staff-of-Oreos

Without the appropriate immune response, the body is unable to respond to staph infections in the usual way. Instead, the reaction is truncated and described as cold. Patients have several non-inflamed boils on the skin.

Retained Primary Teeth
Retainer Teeth

Patients fail to lose baby teeth resulting in two sets of teeth.

Eczema
Ax-zebra

Also known as atopic dermatitis, this is a rash characterized by intense pruritus often presenting on the flexor surfaces of the skin as erythematous papules.

Red Hair
Red hair

Patients with Hyper IgE syndrome often have characteristic red hair.

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