FaCD Online Syndrome Fact Sheet

Last updated: 16 Sep 2008

Name: Hyperimmunoglobulin E Recurrent Infection Syndrome

Synonym: HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive

Mode of Inheritance: AD / AR

Genes

STAT3, mapped to 17q21

Tumor features

Hodgkin disease (Hodgkin's lymphoma)
non-Hodgkin lymphoma

Tumor features (possible)

lung/bronchial cancer
vulvar squamous cell cancer

Non-tumor features

bone, frequent fractures of
craniofacial dysmorphisms
dental abnormalities
eczema
immunodeficiency
joint laxity
palate, high arched
scoliosis
skeletal anomalies

Comment

Hyperimmunoglobulin E recurrent infection syndrome is a primary immunodeficiency disorder characterized by recurrent cutaneous and sinopulmonary infections, skin abcesses, chronic dermatitis and increased serum IgE levels. Abnormal dentition, typical face, joint laxity and bone fractures are other features. The recessive type lacks skeletal involvement.[1]

Non-Hodgkin lymphoma [2-5] and Hodgkins disease[6-8] are known complications. Lung adenocarcinoma[9] and vulvar cancer[10] have been reported as well.

References

[1] Freeman AF, Holland SM. The hyper-IgE syndromes. Immunology and allergy clinics of North America 2008; 28(2):277-91, viii.
[2] Leonard GD, Posadas E, Herrmann PC, Anderson VL, Jaffe ES, Holland SM, Wilson WH. Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. Leukemia & lymphoma 2004; 45(12):2521-5.
[3] Wallet N, Ghez D, Delarue R, Suarez F, Rubio MT, Fischer A, Canioni D, Varet B, Hermine O. Diffuse large B-cell lymphoma in hyperimmunoglobulinemia E syndrome. Clinical lymphoma & myeloma 2007; 7(6):425-7.
[4] Onal IK, Kurt M, Altundag K, Aksoy S, Dincer M, Gullu I. Peripheral T-cell lymphoma and Job's syndrome: a rare association. Medical oncology 2006; 23(1):141-4.
[5] Chang SE, Huh J, Choi JH, Sung KJ, Moon KC, Koh JK. A case of hyper-IgE syndrome complicated by cutaneous, nodal, and liver peripheral T cell lymphomas. The Journal of dermatology 2002; 29(5):320-2.
[6] Kashef MA, Kashef S, Handjani F, Karimi M. Hodgkin lymphoma developing in a 4.5-year-old girl with hyper-IgE syndrome. Pediatric hematology and oncology 2006 Jan-Feb; 23(1):59-63.
[7] Fleta-Asín B, Gonzalvo-Liarte C, Palomera-Bernal L, Cía-Gómez P. [Jobs syndrome associated with Hodgkins lymphoma]. Medicina clínica 2006; 126(19):759.
[8] Lin SJ, Huang JL, Hsieh KH. Hodgkin's disease in a child with hyperimmunoglobulin E syndrome. Pediatric hematology and oncology 1998 Sep-Oct; 15(5):451-4.
[9] Oztop I, Demirkan B, Tarhan O, Kayahan H, Yilmaz U, Kargi A, Alakavuklar M. The development of pulmonary adenocarcinoma in a patient with Job's syndrome, a rare immunodeficiency condition. Tumori 2004 Jan-Feb; 90(1):132-5.
[10] Clark TJ, Herod JJ, Kehoe S, Luesley DM. The development of invasive vulvar cancer in a patient with Job's syndrome, a rare immunodeficient condition. British journal of obstetrics and gynaecology 1998; 105(4):468-70.