Job Syndrome

Classification according to ICD-10
D82.4	Hyperimmunoglobulin E [IgE] syndrome
ICD-10 online (WHO version 2019)

The Job's syndrome , hyper-IgE syndrome or hyper-immunoglobulin E syndrome is an inflammatory skin disease with inflammation of the upper respiratory tract and lungs. The name alludes to the Book of Job 2,7 and goes back to a publication from 1966. Buckley syndrome is a synonym according to a publication from 1972.

Frequency and origin

The frequency is given as 1–9 in 100,000, inheritance is autosomal dominant . In 70% of the patients there are heterozygous mutations in the STAT gene at the locus 17q21.31. STAT3 is responsible for controlling infections with fungi and extracellular bacteria.

diagnosis

Diagnostic criteria are:

Eczematoid dermatitis onset in infancy or early childhood
Recurrent abscessing infections in the face and upper airways, recurrent pneumonia with the formation of pneumatoceles .
Skin abscesses even without clinical signs of inflammation

Late complications are respiratory failure ; malignant lymphoma , systemic lupus erythematosus in isolated cases. In addition, facial features such as rough skin, asymmetry, prominent forehead, deep-set eyes, and wide bridge of the nose were described. Scoliosis is found in over 60%, and increased bone fractures occur in 50%. There are regular abnormalities in tooth development. There is an increased risk of autoimmune diseases and lymphoproliferative diseases.

A polyclonal IgE increase, staphylococcal and Candida-specific IgE increase, high serum IgE (> 2000 IU / ml), eosinophilia are considered pathognomonic in the laboratory .

Must be distinguished are cystic fibrosis and septic granulomatosis and heavy atopic dermatitis and HIV-infection , and also a rare autosomal recessive hyper-IgE syndrome .

Therapy and prognosis

No causal treatment is known; the main thing is the fight against infections. With good care, patients can live to be 50 years old or older.

literature

Jürgen Hess: The hyperimmunoglobulin E syndrome: Analysis of 166 cases from the literature and one case from the University Children's Hospital in Munich . Diss. LMU 1984.

Web links

Job Syndrome. In: Online Mendelian Inheritance in Man . (English)

Individual evidence

↑ ^a ^b ^c B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
↑ SD Davis, J. Schaller, RJ Wedgwood: Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. In: Lancet. Vol. 1, No. 7445, May 1966, pp. 1013-1015, ISSN 0140-6736 . PMID 4161105 .
^ RH Buckley, BB Wray, EZ Belmaker: Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 49 (1972), pp. 59-70, ISSN 0031-4005 . PMID 5059313 .
↑ ^a ^b ^c ^d Job syndrome. In: Orphanet (Rare Disease Database).
↑ Hyper IgE syndrome, autosomal recessive with Orphanet

[Leiber-1] B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9

[2] SD Davis, J. Schaller, RJ Wedgwood: Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. In: Lancet. Vol. 1, No. 7445, May 1966, pp. 1013-1015, ISSN 0140-6736 . PMID 4161105 .

[3] RH Buckley, BB Wray, EZ Belmaker: Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 49 (1972), pp. 59-70, ISSN 0031-4005 . PMID 5059313 .

[Orpha-4] Job syndrome. In: Orphanet (Rare Disease Database).

[5] Hyper IgE syndrome, autosomal recessive with Orphanet