PMID- 28567072
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230307
IS  - 1735-1995 (Print)
IS  - 1735-7136 (Electronic)
IS  - 1735-1995 (Linking)
VI  - 22
DP  - 2017
TI  - Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, 
      and treatment modalities.
PG  - 53
LID - 10.4103/jrms.JRMS_1050_16 [doi]
LID - 53
AB  - The hyperimmunoglobulin E syndromes (HIESs) are very rare immunodeficiency 
      syndromes with multisystem involvement, including immune system, skeleton, 
      connective tissue, and dentition. HIES are characterized by the classic triad of 
      high serum levels of immunoglobulin E (IgE), recurrent staphylococcal cold skin 
      abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES 
      are sporadic although can be inherited as autosomal dominant and autosomal 
      recessive traits. A fundamental immunologic defect in HIES is not clearly 
      elucidated but abnormal neutrophil chemotaxis due to decreased production or 
      secretion of interferon gamma has main role in the immunopathogenesis of syndrome, 
      also distorted Th1/Th2 cytokine profile toward a Th2 bias contributes to the 
      impaired cellular immunity and a specific pattern of infection susceptibility as 
      well as atopic-allergic constitution of syndrome. The ophthalmic manifestations 
      of this disorder include conjunctivitis, keratitis, spontaneous corneal 
      perforation, recurrent giant chalazia, extensive xanthelasma, tumors of the 
      eyelid, strabismus, and bilateral keratoconus. The diagnosis of HIES is 
      inconclusive, dependent on the evolution of a constellation of complex 
      multisystemic symptoms and signs which develop over the years. Until time, no 
      treatment modality is curative for basic defect in HIES, in terms of 
      cytokines/chemokines derangement. Of note, bone marrow transplant and a 
      monoclonal anti-IgE (omalizumab) are hoped to be successful treatment in future.
FAU - Hashemi, Hassan
AU  - Hashemi H
AD  - Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
AD  - Department of Ophthalmology, Farabi Eye Hospital, Tehran University of Medical 
      Sciences, Tehran, Iran.
FAU - Mohebbi, Masoumeh
AU  - Mohebbi M
AD  - Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
AD  - Department of Ophthalmology, Farabi Eye Hospital, Tehran University of Medical 
      Sciences, Tehran, Iran.
FAU - Mehravaran, Shiva
AU  - Mehravaran S
AD  - Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
AD  - Department of Ophthalmology, Stein Eye Institute, David Geffen School of Medicine 
      at UCLA, University of California, Los Angeles, California, USA.
FAU - Mazloumi, Mehdi
AU  - Mazloumi M
AD  - Department of Ophthalmology, Farabi Eye Hospital, Tehran University of Medical 
      Sciences, Tehran, Iran.
FAU - Jahanbani-Ardakani, Hamidreza
AU  - Jahanbani-Ardakani H
AD  - Isfahan Eye Research Center, Feiz Eye Hospital, Isfahan University of Medical 
      Sciences, Isfahan, Iran.
AD  - Isfahan Medical Students Research Center (IMSRC), Isfahan University of Medical 
      Sciences, Isfahan, Iran.
FAU - Abtahi, Seyed-Hossein
AU  - Abtahi SH
AD  - Isfahan Eye Research Center, Feiz Eye Hospital, Isfahan University of Medical 
      Sciences, Isfahan, Iran.
AD  - Isfahan Medical Students Research Center (IMSRC), Isfahan University of Medical 
      Sciences, Isfahan, Iran.
AD  - Department of Ophthalmology, Feiz Eye Hospital, Isfahan University of Medical 
      Sciences, Isfahan, Iran.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20170426
PL  - India
TA  - J Res Med Sci
JT  - Journal of research in medical sciences : the official journal of Isfahan 
      University of Medical Sciences
JID - 101235599
CIN - Int Wound J. 2022 Dec;19(8):2226-2228. PMID: 35474291
PMC - PMC5426098
OTO - NOTNLM
OT  - Autoimmune disease
OT  - Staphylococcus aureus
OT  - eye
OT  - hyperimmunoglobulin E syndrome
OT  - immunodeficiency
OT  - ocular
OT  - omalizumab
COIS- There are no conflicts of interest.
EDAT- 2017/06/02 06:00
MHDA- 2017/06/02 06:01
PMCR- 2017/04/26
CRDT- 2017/06/02 06:00
PHST- 2017/01/04 00:00 [received]
PHST- 2017/01/23 00:00 [revised]
PHST- 2017/01/30 00:00 [accepted]
PHST- 2017/06/02 06:00 [entrez]
PHST- 2017/06/02 06:00 [pubmed]
PHST- 2017/06/02 06:01 [medline]
PHST- 2017/04/26 00:00 [pmc-release]
AID - JRMS-22-53 [pii]
AID - 10.4103/jrms.JRMS_1050_16 [doi]
PST - epublish
SO  - J Res Med Sci. 2017 Apr 26;22:53. doi: 10.4103/jrms.JRMS_1050_16. eCollection 
      2017.