Job syndrome, initially named after the biblical character Job because of its description that resembles patients suffering from this condition, is more commonly referred to as hyper-immunoglobulin E syndrome, a form of primary immunodeficiency that affects multiple systems [1] [2] [3] [4]. Two forms have been described so far:

• Autosomal dominant - Mutations in the signal transducer and activator of transcription 3 (STAT3) gene, which seems to affect the activity of interleukins 6 and 22 (IL-6 and IL-22, respectively), causing changes in Th17 cell function [5], is the primary cause of this syndrome [1] [2] [5]. As a result of these immunological deficits, recurrent bacterial infections of the skin and the lungs are one of the main clinical manifestations [1]. Staphylococcus aureus is the causative agent of furuncles (or boils), which are the hallmark of Job syndrome, whereas a neonatal onset of pustules and eczema (primarily affecting the face and scalp) is an equally important cutaneous sign [1] [4]. Mucocutaneous infections by candida albicans, in the form of oral thrush, onychomycosis, or vaginal infections, are also reported in a significant number of cases [1] [2]. Conversely, streptococcus pneumoniae and haemophilus influenza are main pathogens implicated in the development of recurrent pyogenic pneumonia (presenting with a cough and sputum production), another key feature of Job syndrome [1]. In addition to infections, skeletal changes (scoliosis, osteopenia, increased rate of pelvic and rib bone fractures, as well as degenerative joint disease), dental abnormalities (retention of primary teeth is common) and facial asymmetry with deep-set eyes and a prominent nose comprise the symptomatology of Job syndrome [1] [2] [6].
• Autosomal recessive - The absence of skeletal and connective tissue symptoms, but with severe cutaneous involvement (particularly eczema) is the main distinguishing feature of autosomal recessive Job syndrome [5]. In addition to the mentioned pathogens responsible for lung infections seen in autosomal dominant forms, pseudomonas aeruginosa, proteus mirabilis, but also cryptococcus, pneumocystis jirovecii, adenovirus, and respiratory syncytial virus are important causative agents of pneumonia that may lead to life-threatening complications and sepsis [1] [5].

• Recurrent Infection

  Syndromes[accessedResource: MSH:D007589][accessDate: 05-04-2011], Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. [ebi.ac.uk]

  HIES is characterized by eczema, recurrent infections of the skin and lungs, and elevated levels of serum IgE [3]. [ajronline.org]

  Patients usually present with recurrent infections, pneumonias, and raised serum IgE. [e-ijd.org]

  Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent staphylococcal infections, increased serum IgE, and eosinophilia. [humpath.com]

  infection syndrome ( HIES ) is a primary immunodeficiency characterized by recurrent respiratory and skin infections, eczema, pneumatocele-forming pneumonias, elevated serum IgE level, and eosinophilia. [invitae.com]

• Recurrent Bacterial Infection

  PURPOSE: Autosomal Dominant Hyper IgE Recurrent Infection Syndrome (AD-HIES) is caused by mutations in STAT3 and characterized by eczema, recurrent bacterial infections, and skeletal and connective tissue abnormalities. [ncbi.nlm.nih.gov]

  Purpose Autosomal Dominant Hyper IgE Recurrent Infection Syndrome (AD-HIES) is caused by mutations in STAT3 and characterized by eczema, recurrent bacterial infections, and skeletal and connective tissue abnormalities. [infona.pl]

  Lancet. 1966; 1: 1013-1015 Hill HR Quie PG Raised serum IgE levels and defective neutrophil chemotaxis in three children with eczema and recurrent bacterial infections. [jaad.org]

  Freeman Brief Communication First Online: 09 January 2014 Abstract Purpose Autosomal Dominant Hyper IgE Recurrent Infection Syndrome (AD-HIES) is caused by mutations in STAT3 and characterized by eczema, recurrent bacterial infections, and skeletal and [link.springer.com]

  Recurrent bacterial infections with characteristic distribution pattern: skin (face, hairy head, neck region), mucous membranes of the upper airways (sinusitis, otitis media) and lungs (pneumonia). [altmeyers.org]

• Increased Susceptibility to Infections

  Common features are severe eczema, increased susceptibility to infections and markedly raised levels of immunoglobulin E (IgE). Currently two distinct HIES have been defined. [piduk.org]

  All symptoms confirmed a diagnosis of HIES.1 Patients with AD-HIES are clinically characterized by an increased susceptibility to infection with S. aureus,16 and the colonizing S. aureus strains are mainly antibiotic-resistant strains that harbour key [dovepress.com]

• Recurrent Otitis Media

  A persistent cough, sinusitis (infection of the sinuses), recurrent otitis media (middle ear infections) are also common in Hyper IgE Syndrome affected infants. [syndromespedia.com]

  Upper airway infections manifest as paranasal sinusitis, exsudative otitis media [32], otitis externa and mastoiditis. [ojrd.biomedcentral.com]

  They affected 90% (54/60) of patients and consisted of recurrent otitis media in 73% (44/60) of patients (ranging from 0 to 10 episodes), usually complicated with chronic otorrhea, external otitis in 27% (16/60) of patients, and cholesteatoma in 1 patient [journals.lww.com]

• Swelling

  Immune system cells then attack the joints, causing inflammation, swelling, and pain. If untreated, rheumatoid arthritis causes gradually causes permanent joint damage. [webmd.com]

  […] roots recurrent sinopulmonary infections joint hyperextensibility decreased bone mineral density recurrent fractures eczema, severe recurrent skin abscesses recurrent Staphylococcus aureus infections abscesses are ’cold,’ lacking erythema, heat, and swelling [humpath.com]

  Two tender cystic swellings of size 10 x 6 cm were present in the left inguinal region above and below the inguinal ligaments. On incision and drainage these discharged thick creamy pus. [ijdvl.com]

• Pneumonia

  Up to 90% of the patients had pneumonia, mostly caused by Staph. aureus (31%) or Streptococcus pneumoniae (30%). Recurrent pneumonia was associated with secondary bronchiectasis and pneumatocele (67%), as well as secondary aspergillosis (22%). [hal.inria.fr]

  People may develop respiratory infections, including pneumonia that may leave giant cysts (sacs filled with fluid) after the pneumonia has resolved. An itchy rash develops. Bones are weak, resulting in many fractures. Facial features may be coarse. [merckmanuals.com]

  Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatocoeles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. [humpath.com]

  481 Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia], Lobar pneumonia, organism unspecified References Minegishi Y et al., Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyperIgE syndrome, Nature 448:1058-1062, 2007 Holland [genedx.com]

  We describe an adult female patient with severe lung disease who was phenotypically diagnosed as suffering from autosomal dominant Hyper IgE syndrome (AD HIES) because of recurrent skin infections with Staphylococcus aureus, recurrent pneumonia and elevated [ncbi.nlm.nih.gov]

• Sputum

  Sputum for acid-fast bacilli (AFB) and Mantoux tests were negative. Sputum culture showed a growth of Staphylococcus aureus. Based on the culture and sensitivity pattern, he was managed with the appropriate antibiotics. [edoj.org.eg]

  Furthermore, eosinophilia can be present in blood (approx. 90% of all cases), sputum and pus. The chemotaxis of neutrophil granulocytes is inconstantly reduced. Diagnosis This section has been translated automatically. [altmeyers.org]

  Bronchoscope examination found multimucous sputum in the tracheal and right and left bronchus. [hindawi.com]

  Laboratory abnormalities include the consistent presence of marked hyperimmunoglobulinemia E and eosinophilia of blood, sputum and tissues. [karger.com]

  Surveillance: Periodic chest imaging and high clinical suspicion assist in early detection of infections, culture of skin lesions and sputum samples helps direct therapy. [humpath.com]

• Decreased Breath Sounds

  Bilateral fine crackles were audible in the lower lung, decreased breath sounds at the right base, and scattered expiratory wheeze bilaterally. Abdominal examination revealed moderate left middle abdominal tenderness. [hindawi.com]

• Failure to Thrive

  […] to thrive and recurrent bacterial, viral, fungal, and protozoal infections Diagnosis STAT3 genetic testing to confirm diagnosis Treatment First-line antibiotics indication treat infections as they arise skin care for eczematoid dermatitis modalities [step2.medbullets.com]

  Other features of Netherton syndrome include environmental and food allergies, enteropathy, and failure to thrive. [invitae.com]

  […] to thrive: A case report Melissa M. [e-ijd.org]

  These patients also present with fragile hair, ichthyosis linearis circumflexa, and failure to thrive (Sprecher et al., 2001. PMID: 11511292). [preventiongenetics.com]

  Similar to graft vs host disease, generalized exudative erythroderma with desquamation, lymphadenopathy and hepatosplenomegaly are seen along with severe respiratory tract infections, intractable diarrhea and failure to thrive (FTT). [medcraveonline.com]

• Abdominal Tenderness

  Abdominal examination revealed moderate left middle abdominal tenderness. (a) (b) The leukocyte count was 11,350 cells/L (62% neutrophils, 19% lymphocytes, and 9% eosinophils). [hindawi.com]

• Abdominal Mass

  Percutaneous abdominal mass puncture and drainage guided by ultrasonography were performed, and laboratory examination of drainage liquid reported purulent fluid with a great amount of leukocytes. [hindawi.com]

• Osteopenia

  Patients have coarse facial features, delayed shedding of baby teeth, osteopenia, and recurrent fractures. All have tissue and blood eosinophilia and very high IgE levels ( > 2000 IU/mL). [msdmanuals.com]

  Patients have coarse facial features, delayed shedding of baby teeth, osteopenia, and recurrent fractures. All have tissue and blood eosinophilia and very high IgE levels (> 2000 IU/mL [4800 mcg/L]). [merckmanuals.com]

  Treatment with alendronate sodium may be effective in alleviating osteopenia. [ncbi.nlm.nih.gov]

• Osteoporosis

  The first sign of the disease is pustules and eczematoid rashes of the face and scalp. skeletal manifestations scoliosis minimal trauma fractures due to osteoporosis hyperextensibility of the joints delayed exfoliation of primary teeth, then normal permanent [radiopaedia.org]

  Osteopenia or osteoporosis was found in 79% of children and adults. Only radial BMD correlated with the qualitative occurrence of fractures but it did not correlate with the numbers of fractures. [ncbi.nlm.nih.gov]

  Osteopenia or osteoporosis was found in 79 % of children and adults. Only radial BMD correlated with the qualitative occurrence of fractures but it did not correlate with the numbers of fractures. [link.springer.com]

• Hyperextensible Joints

  Nonimmunologic manifestations of HIES include a characteristic face, pathologic dentition, scoliosis, bone alterations, hyperextensible joints, and vascular abnormalities. [ncbi.nlm.nih.gov]

  Common findings among patients were recurrent fractures (in 57 percent of patients), hyperextensible joints (in 68 percent), and scoliosis (in 76 percent of patients 16 years of age or older). [scienceopen.com]

  Hyperextensible joints including scoliosis and talipes cavus [Figure 1c] were also seen. There was no abnormality of the hair or nails. [journals.lww.com]

  Hyperextensible joints including scoliosis and talipes cavus [Figure 1] c were also seen. There was no abnormality of the hair or nails. [idoj.in]

  Eczema, mucocutaneous candidiasis, retention of the primary teeth, coarse facial features, osteopenia, hyperextensible joints and increased risk of malignancy are also common. [medcraveonline.com]

• Eczema

  Hyper-IgE syndrome (HIES) is a rare group of primary immunodeficiency characterised by recurrent infections, eczema, and elevated serum levels of IgE. [e-ijd.org]

  AR-HIES is due to null mutation in tyrosine kinase 2 gene causing defect in innate and adaptive immunity and susceptibility eczemas, skin and pulmonary infection with increased serum IgE levels. [ijdvl.com]

  […] syndrome, consists of a heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterized by recurrent Staphylococcus aureus chest infections, characteristic coarse facial appearance and dental problems with an eczema-like [radiopaedia.org]

  A common mnemonic used to remember the symptoms is FATED: coarse or leonine facies, cold staph abscesses, retained primary teeth, increased IgE, and dermatologic problems [eczema]. [en.wikipedia.org]

  Symptoms of Job's syndrome include eczema, recurrent abscesses, pneumonia and recurrent candida infections. Eczema usually occurs in the creases behind the ears, the back, buttocks and scalp. [pediatriconcall.com]

• Dermatitis

  Hyper-IgE syndrome is a hereditary combined B- and T-cell immunodeficiency characterized by recurrent staphylococcal abscesses of the skin, sinopulmonary infections, and severe pruritic eosinophilic dermatitis. [merckmanuals.com]

  CONCLUSION: When associated with serum IgE levels 10 times the age-appropriate level, a neonatal papulopustular rash progressing to a chronic impetiginized eczematous dermatitis that differs from classic atopic dermatitis is highly suggestive of AD-HIES [ncbi.nlm.nih.gov]

  Dermatitis is treated with skin hydration, emollient creams, antihistamines. and, if infections are suspected, antibiotics. Pulmonary infections are treated early and aggressively with antibiotics. [msdmanuals.com]

  […] pruritic skin infections noninflamed abscesses on the body cool to the touch retained primary teeth 2 rows of teeth coarse facies Studies Diagnostic testing studies serum ↑ IgE normal IgA, IgG, and IgM ↑ eosinophils ↓ interferon- γ Differential Atopic dermatitis [step2.medbullets.com]

• Skin Rash

  Diseases Targeted: AD-HIES AR-HIES Netherton Syndrome PGM3 Deficiency TYK2 Deficiency Overview: Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by eczema and recurrent skin rash, elevated serum IgE, recurrent staphylococcal [fulgentgenetics.com]

  This can include: Antibiotics to treat infections Cream medicine for skin rash Checking pulmonary (lung) function with spirometry and imaging Some patients may need to take medicine every day to prevent infection Some patients may need to get an IV medicine [cincinnatichildrens.org]

  IgE plays an important role in starting allergic reactions in the body and may be related to some HIES symptoms, such as skin rashes and asthma. Patients also have frequent lung infections, easily broken bones and other symptoms. [clinicaltrials.gov]

  Presentation[edit] It is characterized by recurrent "cold" staphylococcal infections (due to impaired recruitment of neutrophils),[2] unusual eczema-like skin rashes, severe lung infections that result in pneumatoceles (balloon-like lesions that may be [en.wikipedia.org]

  The first symptom of AD-HIES may be a dry, red flaky skin rash (eczema) that develops at birth or early during infancy. Itchiness (pruritis) may also occur. [rarediseases.org]

• Erythema

  There is some pus drainage but no erythema and no warmth. The lesions are cool to the touch. On physical exam, he is noted to have retained primary teeth, eczematous patches on his cheeks, and 2 cold abscesses on his right knee. [step2.medbullets.com]

  […] resorption of primary tooth roots recurrent sinopulmonary infections joint hyperextensibility decreased bone mineral density recurrent fractures eczema, severe recurrent skin abscesses recurrent Staphylococcus aureus infections abscesses are ’cold,’ lacking erythema [humpath.com]

  Figure 1: Multiple pearly white umbilicated papules over perivulval areas Click here to view Figure 2: Multiple periorbital pearly white papules with surrounding erythema and inflammation Click here to view Figure 3: Multiple, flat-topped, small papules [e-ijd.org]

  Recurrent skin infection with S. aureus results in “cold” abscesses lacking the usual features of warmth and erythema, and is a nearly universal feature of HIES. Sinopulmonary infections caused by S. aureus are also common in HIES. [medicaljournals.se]

  Upper gastrointestinal (GI) endoscopy showed two large linear ulcers and whitish exudates in the distal esophagus, pangastric erythema and duodenal erosions. [jpma.org.pk]

• Furunculosis

  CGH Ordering Preferred Specimen: 2-5 mL Blood - Lavender Top Tube Alternative Specimen: Oral Rinse (30-40 mL) | Buccal Swabs Billing CPT Codes: 81405x1, 81479x1 ICD Codes: 513 Abscess of lung and mediastinum 680 Carbuncle and furuncle Includes: boil furunculosis [genedx.com]

  The skin and soft tissue infections present as cellulitis, furunculosis, paronychia, suppurative adenitis and deep soft tissue 'cold' abscesses. Severe pulmonary infections caused by either S. aureus or H. influenzae are common. [edoj.org.eg]

  […] of HIES and usually begins at 2 months to 2 years of age. [1] It resembles atopic dermatitis, but is accentuated in retroauricular and hairline areas in addition to flexural involvement. [1] The skin and soft tissue infections present as cellulitis, furunculosis [ijdvl.com]

  The skin and soft tissue infections may present in the form of cellulitis, furunculosis, paronychia, suppurative adenitis and \\\'cold\\\' abscesses. 1 IgE level in HIES is usually higher than 2000 IU/ml however, it does not correlate with disease severity [jpma.org.pk]

  The other types of bacterial skin infections observed included impetigo, pustulosis, and pyodermatitis in 45% of patients (n = 27), folliculitis and/or furunculosis in 35% (n = 21), paronychia in 23% (n = 14), lymph node abscesses in 20% (n = 12), and [journals.lww.com]

• Coarse Face

  Hyperextensible joints/recurrent bone fractures, and distinctive coarse faces( prominent forehead, deep-set eyes, broad nasal bridge, and wide interalar distance) in early childhood. [wikidoc.org]

  In 1972, Buckley and colleagues reported infectious complications in two children who presented with severe chronic dermatitis, coarse faces, and an increased concentration of serum immunoglobulin E; hence these manifestations were termed "Buckley's Syndrome [ojrd.biomedcentral.com]

The diagnosis of Job syndrome rests on the ability of the physician to recognize the signs and symptoms followed by identification of key laboratory criteria. A detailed patient history should be obtained first, during which patients (or parents of affected children) should be inquired about the appearance of recurrent infections and skin lesions. Furthermore, the autosomal dominant pattern of inheritance suggests that the disease must be present in one of the parents, thus a positive family history might be a crucial piece of information. After a thorough physical examination, laboratory studies are the next step in the workup. A complete blood count (CBC) revealing an elevated eosinophil count and abnormally high serum immunoglobulin E (IgE) levels (exceeding > 2,000 IU/mL) are the two cardinal laboratory criteria for the diagnosis of Job syndrome [1] [2] [5]. IgE levels are elevated from birth, but may gradually reduce by adulthood, and isolated studies report that up to 20% of patients had normal IgE levels despite confirmed mutations [1] [2]. For this reason, a scoring system was designed in order to aid physicians in determining the probability of Job syndrome as the underlying cause, including all of the mentioned findings [4]. A definite diagnosis can be achieved by performing genetic testing that will confirm STAT3 mutations in the case of autosomal dominant Job syndrome, but mutations responsible for autosomal recessive forms are yet to be elucidated.

• Anergy

  There is cutaneous anergy to skin prick tests and a reduced or absent in vitro lymphocyte response to mitogens. [medcraveonline.com]

• Pulmonary Pneumatocele

  Patients may also have sinopulmonary infections, pulmonary pneumatoceles, and a severe pruritic eosinophilic dermatitis. Patients have coarse facial features, delayed shedding of baby teeth, osteopenia, and recurrent fractures. [merckmanuals.com]

  Symptoms and Signs Hyper-IgE syndrome typically causes recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera; sinopulmonary infections; pulmonary pneumatoceles; and a severe pruritic eosinophilic dermatitis. [msdmanuals.com]

• Staphylococcus Aureus

  In hyper IgE syndrome recurrent chest infections in childhood with Staphylococcus aureus are usually less symptomatic than in immunocompetent children. Hence in most cases, delayed treatment results in severe damage to the lung parenchyma. [radiopaedia.org]

  We describe an adult female patient with severe lung disease who was phenotypically diagnosed as suffering from autosomal dominant Hyper IgE syndrome (AD HIES) because of recurrent skin infections with Staphylococcus aureus, recurrent pneumonia and elevated [ncbi.nlm.nih.gov]

  The original hyper-IgE syndrome is characterized by diminished inflammatory response, in combination with Staphylococcus aureus skin abscess and pneumonia followed by pneumatocele formation. [jstage.jst.go.jp]

  Hyper-IgE syndrome (HIES) refers to a group of primary immunodeficiencies characterized by severe infections of the skin and lungs, particularly with Staphylococcus aureus and fungi, atopy, and significantly elevated serum IgE, together with various non-immunological [lasid.org]

Hence in most cases, delayed treatment results in severe damage to the lung parenchyma. [radiopaedia.org]

Treatment consists of supportive measures, including lifelong prophylactic antistaphylococcal antibiotics. [merckmanuals.com]

Thus, most AD-HIES STAT3 mutations are destabilizing; agents that modulate chaperone protein function improve STAT3 stability and activity in T cells and may provide a specific treatment. [ncbi.nlm.nih.gov]

Various treatment modalities used for disseminated MC infection in HIES include physical destruction or manual extrusion of lesions, cryotherapy, curettage, imiquimod and retinoids. [ijdvl.com]

Currently, there is only one published case of Hyper IgE syndrome with DOCK8 mutation, from India, where the patient could not survive even after receiving the treatment. [americanoncology.com]

Diagnosis STAT3 genetic testing to confirm diagnosis Treatment First-line antibiotics indication treat infections as they arise skin care for eczematoid dermatitis modalities bleach baths topical steroids and tacrolimus Complications ↑ Risk of lymphoma Prognosis [step2.medbullets.com]

Overall, the prognosis of STAT3 deficiency may be considered good, provided that multiple prophylactic measures, including IgG infusions, are implemented. https://www.hal.inserm.fr/inserm-00717018 Contributeur : Hervé de Villemeur <> Soumis le : mercredi [hal.inria.fr]

Analysis of the genes associated with HIES helps with prognosis and treatment development. [fulgentgenetics.com]

Prognosis Infectious pulmonary complications are the leading cause of death in patients with HIES, followed by lymphoma: Prognosis depends on the complications arising from the disease. [wikidoc.org]

Hochreutener H et al (1991) Variant of Hyper-Ig-E syndrome: The differentiation from atopic dermatitis is important because of treatment and prognosis. [altmeyers.org]

There are at least two types of hyper IgE syndrome 2: autosomal dominant (STAT3 deficiency) more common caused by a mutation in STAT3 gene autosomal recessive etiology unknown maybe be associated with DOCK8 deficiency and phosphoglucomutase 3 (PGM3) deficiency [radiopaedia.org]

Introduction Clinical definition hyper IgE syndrome, also known as Job syndrome, is a primary immunodeficiency characterized by defective neutrophil chemotaxis ETIOLOGY Pathogenesis defect in the JAK-STAT pathway causes impaired recruitment of neutrophils [step2.medbullets.com]

Abstract : ABSTRACT: Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. [hal.inria.fr]

Ongoing controversies regarding etiology, diagnosis, treatment [cancertherapyadvisor.com]

Genetic testing can help establish a HIES diagnosis and determine the specific etiology. Analysis of the genes associated with HIES helps with prognosis and treatment development. [fulgentgenetics.com]

You might also be interested in Dermatology Occurrence/Epidemiology This section has been translated automatically. Rare; about 300 cases have been described in the literature to date. Etiopathogenesis This section has been translated automatically. [altmeyers.org]

Association Between Psoriasis and Sexual and Erectile Dysfunction in Epidemiologic Stud... Preview https://www.ncbi.nlm.nih.gov/pubmed/30304327 JAMA Dermatology; Molina-Leyva A, Salvador-Rodriguez L et. al. [allmedx.com]

Epidemiology Frequency Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare disease. The exact incidence is unknown. It has no known associations with race, ethnicity, or gender. [emedicine.medscape.com]

Proteinuria ↓ ↓ ↓ ↓ - - Comined Immunodeficiency ↓ ↓ ↓ ↓ + + X linked agammaglobulinemia ↓ ↓ ↓ ↓ + - Hyperimmunoglobulin M syndrome ↑ ↓ ↓ ↓ + - Common variable immunodeficiency ↓ ↓ ↓ ↓ + - Wiskott-Aldrich syndrome ↓ ↓ ↑ ↑ - + Hyper IgE syndrome - - - ↑ - + Epidemiology [wikidoc.org]

The pathophysiologic mechanism of hyperimmunoglobulin E syndrome immunodeficiency has recently been linked to a disorder in the T helper 17 pathway and disruption of the interleukin -23/interleukin-17 axis. [pediatrics.aappublications.org]

These approaches allow for a better understanding of complex phenotypes associated with somatic mosaicisms, and present the possibility to analyze the role of B lymphocytes in the pathophysiology of this disease. [ncbi.nlm.nih.gov]

Pathophysiology The pathophysiology of Job syndrome (HIE syndrome, or hyper-IgE syndrome) is not completely understood. [8] Patients consistently have a poor, delayed hypersensitivity response to antigens. [emedicine.medscape.com]

Such a comprehensive evaluation of the coronary artery tree may contribute to the understanding of the pathophysiology and potential detection of new aspects of these diseases. [ajronline.org]

[citation needed] Pathophysiology[edit] Abnormal neutrophil chemotaxis due to decreased production of interferon gamma by T lymphocytes is thought to cause the disease.[5] Both autosomal dominant and recessive inheritance have been described:[6][7] Autosomal [en.wikipedia.org]

Antibiotics Antibiotics, usually trimethoprim/sulfamethoxazole, are given continuously to prevent staphylococcal infections. The rash is treated with moisturizing creams, antihistamines, and, if infection is likely, antibiotics. [merckmanuals.com]

Treatment is centred on preventing and treating infections using antibiotic, antifungal and antiviral medicines. Good skin care and hygiene to prevent infection is essential. [piduk.org]

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2. Grimbacher B, Holland SM, Gallin JI, et al. Hyper-IgE syndrome with recurrent infections-an autosomal dominant multisystem disorder. N Engl J Med. 1999;340:692–702.
3. Holland SM, DeLeo FR, Elloumi HZ, et al. STAT3 mutations in the Hyper-IgE syndrome. N Engl J Med. 2007;18:1608–1619.
4. Grimbacher B, Schaffer AA, Holland SM, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999;65:735–744.
5. Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K. The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency. Orphanet J Rare Dis. 2011;6:76.
6. O'Connell AC, Puck JM, Grimbacher B, et al. Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000;89:177–185.