Hyper-ige syndrome D82.4

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Buckley Syndrome; HESA; Hyper-IgE syndrome; Hyper IgE Syndrome; hyper-IgE syndromes; Hyperimmunoglobulin E Staphylococcal Abscess Syndrome; Hyperimmunoglobulin E syndrome; Job's Syndrome

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Davis, 1966; Buckley, 1972

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Small group of rare immunodeficiency syndromes (multisystemic disease) with the clinical triad: recurrent skin infections mainly caused by staphylococci (e.g. furunculosis), infections of the upper and lower respiratory tract (bronchopneumonia-J18.0), excessive increase of serum IgE levels and blood eosinophilia (D72.1).

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Rare; about 250 cases have been described in the literature so far.

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The most common is an autosomal-dominantly inherited variant with mutations in the so-called hyper-IgE syndrome gene (STAT-3 gene) = HIOB syndrome.

Furthermore, autosomal recessive variants were found with mutations in the DOCK8 gene, ZNF431 gene(zinc finger 431 gene) and the PGM3 gene (protein coding gene, which codes for phosphoglucomutase3). There is no relation to the diseases of the atopic form.

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Occurring in infancy or early childhood. Both sexes are equally affected.

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Skin: Face, hairy head, neck region.

Mucous membranes: Upper and lower airways.

Clinical features
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Mostly manifestation as superinfected atopic eczema with recurrent abscessing infections of the skin (face, neck), the mucous membranes of the upper (sinusitis, otitis media) and lower (pneumonia) airways and lung cysts.

Recurrent bacterial infections with a characteristic distribution pattern: skin (face, hairy head, neck), mucous membranes of the upper airways (sinusitis, otitis media) and lungs (pneumonia). The pathogen is predominantly Staphylococcus aureus, but other Gram-positive and Gram-negative pathogens are also frequently detected. Abscesses often form with and without clinical signs of inflammation (often "cold abscesses", but not obligatory).

Mycotic infections are common, mostly running as mucocutaneous candidiasis, with severe nail dystrophies.

Tooth changes: Persistent milk teeth due to non-apposition or delayed eruption, high arched palate.

Isolated cases with associated cutis verticis gyrata have been described.

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In most cases an excessive polyclonal IgE increase (values up to 40,000 IU/ml) is detectable in serum, with Staphylococcus and Candida specific IgE in high titers. Furthermore, eosinophilia can be present in blood (approx. 90% of all cases), sputum and pus. The chemotaxis of neutrophil granulocytes is inconstantly reduced.

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IgE (polyclonal multiplication usually > 5000 IU/ml)

RAST (often staphylococci and Candida-specific IgE)

Blood count (eosinophilia)

Sputum and abscess smear (eosinophilia)

Lymphocyte transformation test (normal response to PHA and ConA and reduced response to antigens e.g. tetanus).

Differential diagnosis
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The cause of death is usually a pulmonary insufficiency due to recurrent infections of the lower airways (pathogen: Pseudomonas aeruginosa or fungal species, mostly Aspergillus species). Cerebral mycotic infections can also be a possible cause of death. Malignant lymphomas and systemic lupus erythematosus (individual case reports) may be concomitant.

External therapy
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Polidocanol cream R200 against itching. For antimycotic infections local azole derivatives such as ketoconazole (e.g. Nizoral cream). Skin hygiene and skin care creams with antiseptic additives such as 0.5-2% clioquinol cream(e.g. Linola-Sept, R049 ) to reduce the bacterial and antimycotic secondary infections. External glucocorticoids like 0.1% triamcinolone cream(e.g. Triamgalen, R259 ) are controversial in their efficacy but can be tried for a short time.

Internal therapy
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No uniform therapy regimen; the results are often unsatisfactory, symptomatic therapy is the main focus. Therapy adapted to the recurrent infections. Often staphylococcal infections, therefore penicillinase-resistant penicillins such as dicloxacillin (e.g. InfectoStaph) or flucloxacillin (e.g. Staphylex Kps.) 2-3 g/day in 3 ED. Antihistamines like Desloratadine (e.g. Aerius) 1 tbl/day against severe itching. If necessary, anticoagulatory therapy to prevent thrombembolic events. Close-meshed controls for bacterial and mycotic superinfections! Risk of pulmonary insufficiency after recurrent pneumonia.

Glucocorticoids are mainly used for urticarial efflorescences and angioedema in medium dosage, e.g. Prednisolon 40-60 mg/day (e.g. Decortin H Tbl.), slow release, maintenance dose: 2-10 mg/day p.o. Vit. C and cimetidine (e.g. Tagamet Filmtbl. 2 times 200 g/day) should reduce the frequency of infection. The use of isotretinoin should reduce the frequency of staphylococcal infections.

Interferons such as interferon gamma. 0.05 mg/m2 KO have been tried in individual cases. In severe cases, high-dose glucocorticoids in combination with cytostatic drugs such as hydroxycarbamide (e.g. Litalir) 50-80 mg/kg bw/day p.o. are used. Vincristine (especially in cases of a massive increase in eosinophils), etoposide or chlorambucil are also suitable combination partners.

Gamma globulins or plasmapheresis can be tried.

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Long term prognosis is unknown.

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  1. Al-Shaikhly T et al (2019) Hyper IgE syndromes: clinical and molecular characteristics. Immunol Cell Biol 97:368-379.
  2. Belohradsky BH, Thumb S, Kiess W, Griscelli C (1987) Hyper IgE syndrome (Buckley or Job syndrome). Results of internal medicine and pediatrics 55: 1-39
  3. Buckley RM, Wray BB, Belmaker EZ (1972) Extreme hypergamma immunoglobulinemia E and undue susceptibility to infection. Pediatrics 49: 59
  4. Buckley RH, Becker WG (1978) Abnormalities in the regulation of human IgE synthesis. Immune Rev 41: 288-314
  5. Chamlin SL et al (2002) Cutaneous manifestations of hyper-IgE syndrome in infants and children. J Pediatr 141: 572-575
  6. Davis SD, Schaller J, Wedgwood RJ (1966) Job's syndrome: recurrent, 'cold,' staphylococcal abscesses. Lancet I: 1013-1015
  7. Grimbacher B et al (1999) Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med 340: 692-702
  8. Hochreutener H et al (1991) Variant of Hyper-Ig-E Syndrome: The differentiation from atopic dermatitis is important because of treatment and prognosis. Dermatologica 182: 7-11
  9. Ito R et al (2003) Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome. Allergy 58: 329-336


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Last updated on: 29.10.2020