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Hyperimmunoglobulin E syndrome(AD-HIES)

MedGen UID:
43995
Concept ID:
C0022398
Disease or Syndrome
Synonyms: AD hyperimmunoglobulin E syndrome; AD-HIES; Autosomal dominant hyper IgE syndrome; Autosomal Dominant Hyper IgE Syndrome; HIES autosomal dominant; Hyper Ig E syndrome, autosomal dominant; Hyper IgE Syndrome; HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant; Job syndrome; Job's Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): STAT3 (17q21.2)
OMIM®: 147060

Disease characteristics

Excerpted from the GeneReview: Autosomal Dominant Hyper IgE Syndrome
Autosomal dominant hyper IgE syndrome (AD-HIES) is a primary immune deficiency characterized by the classic triad of recurrent skin boils, cyst-forming pneumonias, and extreme elevations of serum IgE. It is now recognized that other common manifestations include eczema, mucocutaneous candidiasis, and several connective tissue and skeletal abnormalities. A rash in the newborn period subsequently evolves into an eczematoid dermatitis. 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. A characteristic facial appearance typically emerges in adolescence. Skeletal abnormalities include osteopenia, minimal trauma fractures, and scoliosis. Vascular abnormalities include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease; esophageal dysmotility; and rarely colonic perforations, some of which are associated with diverticuli. Fungal infection of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, but life span is often shortened. Most deaths are associated with Gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Amy P Hsu  |  Joie Davis  |  Jennifer M Puck, et. al.   view full author information

Additional descriptions

From OMIM
Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).  http://www.omim.org/entry/147060
From GHR
Job syndrome is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. Recurrent skin infections and an inflammatory skin disorder called eczema are also very common in Job syndrome. These skin problems cause rashes, blisters, collections of pus (abscesses), open sores, and scaling. Job syndrome is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood, which is why this condition is also known as hyper-IgE syndrome. IgE triggers an immune response against foreign invaders in the body, particularly parasitic worms, and plays a role in allergies. It is unclear why people with Job syndrome have such high levels of IgE. This condition also affects other parts of the body, including the bones and teeth. Many people with Job syndrome have skeletal abnormalities such as an unusually large range of joint movement (hyperextensibility), an abnormal curvature of the spine (scoliosis), reduced bone density (osteopenia), and a tendency for bones to fracture easily. Dental abnormalities are also characteristic of this condition. The primary (baby) teeth do not fall out at the usual time during childhood, but are retained as the adult teeth grow in. Other signs and symptoms of Job syndrome can include distinctive facial features and structural abnormalities of the brain, which typically do not affect a person's intelligence.  http://ghr.nlm.nih.gov/condition/job-syndrome

Clinical features

Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Wide nose
MedGen UID:
140869
Concept ID:
C0426421
Finding
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Craniosynostosis
MedGen UID:
342372
Concept ID:
C1849943
Finding
Coarse facial features
MedGen UID:
381459
Concept ID:
C1854600
Finding
Delayed eruption of teeth
MedGen UID:
400949
Concept ID:
C1866235
Finding
Cleft palate
MedGen UID:
504379
Concept ID:
CN000170
Finding
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Gingivitis
MedGen UID:
504401
Concept ID:
CN000222
Finding
Inflammation of the gingiva.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Abnormality of the nose
MedGen UID:
427806
Concept ID:
CN000342
Finding
An abnormality of the nose.
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Persistence of primary teeth
MedGen UID:
501011
Concept ID:
CN005520
Finding
Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Craniosynostosis
MedGen UID:
342372
Concept ID:
C1849943
Finding
Osteopenia
MedGen UID:
409692
Concept ID:
C1968854
Finding
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Osteomyelitis
MedGen UID:
505345
Concept ID:
CN002499
Finding
An infection of bone.
Recurrent fractures
MedGen UID:
500939
Concept ID:
CN002502
Finding
The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture).
Paronychia
MedGen UID:
45334
Concept ID:
C0030578
Disease or Syndrome
An inflammatory reaction involving the folds of the skin surrounding the fingernail. It is characterized by acute or chronic purulent, tender, and painful swellings of the tissues around the nail, caused by an abscess of the nail fold. The pathogenic yeast causing paronychia is most frequently Candida albicans. Saprophytic fungi may also be involved. The causative bacteria are usually Staphylococcus, Pseudomonas aeruginosa, or Streptococcus. (Andrews' Diseases of the Skin, 8th ed, p271)
Eczematoid dermatitis
MedGen UID:
504671
Concept ID:
CN000914
Finding
Skin rash
MedGen UID:
504676
Concept ID:
CN000925
Finding
A red eruption of the skin.
Pruritus
MedGen UID:
504677
Concept ID:
CN000926
Finding
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the fingernails.
Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Aneurysm
MedGen UID:
428304
Concept ID:
CN002379
Finding
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Increased IgE level
MedGen UID:
374150
Concept ID:
C1839165
Finding
Eosinophilia
MedGen UID:
412195
Concept ID:
C2240374
Finding
A condition in which the number of eosinophils (a type of white blood cell) in the blood is greatly increased. Eosinophilia is often a response to infection or allergens (substances that cause an allergic response).
Abnormality of eosinophils
MedGen UID:
428282
Concept ID:
CN001699
Finding
An eosinophil abnormality.
Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Increased IgE level
MedGen UID:
374150
Concept ID:
C1839165
Finding
Abnormality of temperature regulation
MedGen UID:
425258
Concept ID:
CN003869
Finding
An abnormality of temperature homeostasis.
Recurrent sinopulmonary infections
MedGen UID:
339549
Concept ID:
C1846546
Finding
Atelectasis
MedGen UID:
368769
Concept ID:
C1962948
Pathologic Function
Increased IgE level
MedGen UID:
374150
Concept ID:
C1839165
Finding
Recurrent fungal infections
MedGen UID:
336166
Concept ID:
C1844384
Finding
Recurrent sinopulmonary infections
MedGen UID:
339549
Concept ID:
C1846546
Finding
Eosinophilia
MedGen UID:
412195
Concept ID:
C2240374
Finding
A condition in which the number of eosinophils (a type of white blood cell) in the blood is greatly increased. Eosinophilia is often a response to infection or allergens (substances that cause an allergic response).
Recurrent Staphylococcus aureus infections
MedGen UID:
392925
Concept ID:
C2673462
Finding
Abnormality of eosinophils
MedGen UID:
428282
Concept ID:
CN001699
Finding
An eosinophil abnormality.
Cellulitis
MedGen UID:
776558
Concept ID:
C2025995
Finding

Recent clinical studies

Etiology

Martin S, Wolters P, Billings N, Toledo-Tamula MA, Hammoud DA, Welch P, Darnell D, Holland SM, Freeman AF
J Clin Immunol 2013 Oct;33(7):1175-84. Epub 2013 Aug 21 doi: 10.1007/s10875-013-9932-z. [Epub ahead of print] PMID: 23963745
Erbagci Z
Pediatr Dermatol 2008 Jan-Feb;25(1):28-33. doi: 10.1111/j.1525-1470.2007.00577.x. PMID: 18304149
Freeman AF, Collura-Burke CJ, Patronas NJ, Ilcus LS, Darnell D, Davis J, Puck JM, Holland SM
Pediatrics 2007 May;119(5):e1121-5. Epub 2007 Apr 16 doi: 10.1542/peds.2006-2649. [Epub ahead of print] PMID: 17438082
Tanji C, Yorioka N, Kanahara K, Naito T, Oda H, Ishikawa K, Taguchi T
Intern Med 1999 Jun;38(6):491-4. PMID: 10411355
Pasic S, Lilic D, Pejnovic N, Vojvodic D, Simic R, Abinun M
Acta Paediatr 1998 Jun;87(6):702-4. PMID: 9686668

Diagnosis

Araya N, Inose H, Kato T, Saito M, Sumiya S, Yamada T, Yoshii T, Kawabata S, Okawa A
J Neurosurg Spine 2014 Aug;21(2):292-5. Epub 2014 May 16 doi: 10.3171/2014.4.SPINE13629. [Epub ahead of print] PMID: 24836661
Wolach O, Kuijpers T, Ben-Ari J, Gavrieli R, Feinstein-Goren N, Alders M, Garty BZ, Wolach B
J Clin Immunol 2014 Feb;34(2):163-70. Epub 2014 Jan 23 doi: 10.1007/s10875-014-9988-4. [Epub ahead of print] PMID: 24452316
Yokota K, Kanemitsu T, Igaki N
Intern Med 2013;52(20):2367-70. PMID: 24126402
Patiroglu T, Gungor HE, Lazaroski S, Unal E
Acta Microbiol Immunol Hung 2013 Jun;60(2):155-62. doi: 10.1556/AMicr.60.2013.2.6. PMID: 23827747
Garcés P, Garcia-Martin F, Detkova D, Espanol T
J Investig Allergol Clin Immunol 2012;22(2):149-52. PMID: 22533245

Therapy

Karakoc-Aydiner E, Baris S, Keles S, Ozdemir C, Chatila T, Barlan I
J Investig Allergol Clin Immunol 2013;23(5):359-61. PMID: 24260982
Yokota K, Kanemitsu T, Igaki N
Intern Med 2013;52(20):2367-70. PMID: 24126402
Steiner SJ, Kleiman MB, Corkins MR, Christenson JC, Wheat LJ
Pediatr Infect Dis J 2009 Aug;28(8):744-6. doi: 10.1097/INF.0b013e31819b65e0. PMID: 19633521
Powers AE, Bender JM, Kumánovics A, Ampofo K, Augustine N, Pavia AT, Hill HR
Pediatr Infect Dis J 2009 Jul;28(7):664-6. doi: 10.1097/INF.0b013e31819866ec. PMID: 19483664
Erbagci Z
Pediatr Dermatol 2008 Jan-Feb;25(1):28-33. doi: 10.1111/j.1525-1470.2007.00577.x. PMID: 18304149

Prognosis

Martin S, Wolters P, Billings N, Toledo-Tamula MA, Hammoud DA, Welch P, Darnell D, Holland SM, Freeman AF
J Clin Immunol 2013 Oct;33(7):1175-84. Epub 2013 Aug 21 doi: 10.1007/s10875-013-9932-z. [Epub ahead of print] PMID: 23963745
Erbagci Z
Pediatr Dermatol 2008 Jan-Feb;25(1):28-33. doi: 10.1111/j.1525-1470.2007.00577.x. PMID: 18304149
van der meer JW, Weemaes CM, van Krieken JH, Blomjous CE, van Die CE, Netea MG, Bredie SJ
J Intern Med 2006 Jun;259(6):615-8. doi: 10.1111/j.1365-2796.2006.01653.x. PMID: 16704563
Tanji C, Yorioka N, Kanahara K, Naito T, Oda H, Ishikawa K, Taguchi T
Intern Med 1999 Jun;38(6):491-4. PMID: 10411355
Pasic S, Lilic D, Pejnovic N, Vojvodic D, Simic R, Abinun M
Acta Paediatr 1998 Jun;87(6):702-4. PMID: 9686668

Clinical prediction guides

Wolach O, Kuijpers T, Ben-Ari J, Gavrieli R, Feinstein-Goren N, Alders M, Garty BZ, Wolach B
J Clin Immunol 2014 Feb;34(2):163-70. Epub 2014 Jan 23 doi: 10.1007/s10875-014-9988-4. [Epub ahead of print] PMID: 24452316
Martin S, Wolters P, Billings N, Toledo-Tamula MA, Hammoud DA, Welch P, Darnell D, Holland SM, Freeman AF
J Clin Immunol 2013 Oct;33(7):1175-84. Epub 2013 Aug 21 doi: 10.1007/s10875-013-9932-z. [Epub ahead of print] PMID: 23963745
Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K
Orphanet J Rare Dis 2011 Nov 15;6:76. doi: 10.1186/1750-1172-6-76. [Epub ahead of print] PMID: 22085750Free PMC Article
van de Veerdonk FL, Marijnissen RJ, Joosten LA, Kullberg BJ, Drenth JP, Netea MG, van der Meer JW
Clin Exp Immunol 2010 Jan;159(1):57-64. Epub 2009 Oct 30 doi: 10.1111/j.1365-2249.2009.04043.x. [Epub ahead of print] PMID: 19878510Free PMC Article
Tanaka H, Ito R, Onodera N, Waga S
Tohoku J Exp Med 1998 Sep;186(1):61-6. PMID: 9915108

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