PMID- 33269088
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240330
IS  - 2053-8855 (Print)
IS  - 2053-8855 (Electronic)
IS  - 2053-8855 (Linking)
VI  - 2020
IP  - 11
DP  - 2020 Nov
TI  - Hyper IgE syndrome (Job syndrome) in Syria: a case report.
PG  - omaa106
LID - 10.1093/omcr/omaa106 [doi]
LID - omaa106
AB  - Hyper IgE syndrome (HIES) is a medical condition that can be sporadic or 
      hereditary. It consists of multiple overlapping primary immunodeficiency 
      conditions and is characterized by a classical triad of high immunoglobulin E 
      (IgE) levels, recurrent pneumonia with pneumatocele and recurrent cold skin 
      abscesses from staphylococcus infections. Eosinophilia is also common in HIES 
      patients. HIES is often underdiagnosed in Syria as it cannot be confirmed without 
      genetic testing, which is unavailable across Syria for HIES. We present the first 
      case from Syria of a suspected child with HIES that has some additional distinct 
      features. Other cases in a regional country carried atypical novel mutations, 
      which may indicate that these mutations may exist in Syria as well. However, our 
      case had findings that were not reported with other HIES cases. Determining these 
      genes in the case presented was not possible, and future studies need to overcome 
      this hurdle.
CI  - (c) The Author(s) 2020. Published by Oxford University Press. All rights reserved. 
      For Permissions, please email: journals.permissions@oup.com.
FAU - Awad, Rama
AU  - Awad R
AD  - Department of Endocrinology, Al Mouwasat University Hospital, Damascus 
      University, Damascus, Syria.
FAU - Kakaje, Ameer
AU  - Kakaje A
AUID- ORCID: 0000-0002-3949-6109
AD  - Damascus University, Damascus, Syria.
LA  - eng
PT  - Case Reports
DEP - 20201124
PL  - England
TA  - Oxf Med Case Reports
JT  - Oxford medical case reports
JID - 101642070
PMC - PMC7685025
OTO - NOTNLM
OT  - Hyper IgE Syndrome
OT  - Job syndrome
OT  - Symptoms
OT  - Syria
OT  - novel mutations
EDAT- 2020/12/04 06:00
MHDA- 2020/12/04 06:01
PMCR- 2020/11/24
CRDT- 2020/12/03 05:46
PHST- 2020/05/28 00:00 [received]
PHST- 2020/07/20 00:00 [revised]
PHST- 2020/09/11 00:00 [accepted]
PHST- 2020/12/03 05:46 [entrez]
PHST- 2020/12/04 06:00 [pubmed]
PHST- 2020/12/04 06:01 [medline]
PHST- 2020/11/24 00:00 [pmc-release]
AID - omaa106 [pii]
AID - 10.1093/omcr/omaa106 [doi]
PST - epublish
SO  - Oxf Med Case Reports. 2020 Nov 24;2020(11):omaa106. doi: 10.1093/omcr/omaa106. 
      eCollection 2020 Nov.