Job (Hyper IgE) Syndrome
Autosomal Dominant Diseases
- Marfan Syndrome
- Li-Fraumeni Syndrome (LFS)
- Job (Hyper IgE) Syndrome
- Hereditary Spherocytosis
- von Hippel-Lindau (VHL)
- MEN 1
- MEN 2
- Von Recklinghausen Disease (NF I)
- Neurofibromatosis Type II (NF II)
- Myotonic Dystrophy
Job Syndrome, also known as hyperimmunoglobulinemia E syndrome (HIES), is a primary immunodeficiency syndrome that results from defective neutrophil chemotaxis.
The syndrome is caused by an autosomal dominant mutation in STAT3 (part of the JAK-STAT pathway), which impairs Th17 cells, particularly affecting the recruitment of neutrophils. Presentation includes coarse facies, cold staphylococcal abscesses, retained primary teeth, increased IgE, and dermatologic problems (eczematous papulopustular rash).
Find Job Syndrome and other Autosomal Dominant Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.