Job syndrome

Also known as: Buckley syndrome; Hyper-IgE syndrome

Primary immunodeficiency with eczema, recurrent skin and lung infections and high IgE.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: DOCK8, PGM3, SPINK5, STAT3, ZNF341

Etiology & mechanism

STAT3 dominant negative variants.

Gene(s) involved (5)

DOCK8PGM3SPINK5STAT3ZNF341

Symptoms & signs (7)

coarse faciescold abscesseseczemahigh igepneumatocelesretained primary teethscoliosis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.