PMID- 34141423
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220424
IS  - 2049-0801 (Print)
IS  - 2049-0801 (Electronic)
IS  - 2049-0801 (Linking)
VI  - 66
DP  - 2021 Jun
TI  - Pediatric hyperimmunoglobulin E syndrome (Job's syndrome) with STAT3 mutation: A 
      case report.
PG  - 102452
LID - 10.1016/j.amsu.2021.102452 [doi]
LID - 102452
AB  - INTRODUCTION: Job's syndrome or hyper-immunoglobulin E syndromes (HIES) is a 
      rare, heterogeneous complex of primary immunodeficiency disorders. It is 
      characterized by triad of extremely high serum immunoglobulin E (IgE) levels, 
      recurrent cutaneous infections like chronic eczematous dermatitis, skin abscesses 
      and recurrent sinopulmonary infections. These patients have characteristic facial 
      appearance and many oral manifestations. Eosinophilia, retention of deciduous 
      teeth and skeletal abnormalities are other important clinical features of this 
      syndrome. Familial HIES is of two types depending on the type of gene involved; 
      autosomal-dominant HIES (AD-HIES), which develops due to mutation in human signal 
      transducer and activator of transcription 3 gene (STAT3) and autosomal recessive 
      HIES caused by DOCK8 gene mutation, but most cases are sporadic. CASE 
      PRESENTATION: Hereby, we present a case of 5 years old female child who presented 
      to our hospital with extensive eczematous lesions over flexural aspect of arms 
      and over the gluteal region extending to the lower limb. The complete clinical 
      presentation and lab investigations have confirmed AD-HIES syndrome. A novel 
      missense mutation in exon 17 (c.1593A > T, p.K531 N) was identified in the STAT3 
      gene. DISCUSSION: The therapeutic strategy is directed mainly toward the 
      prevention and management of infections and symptoms. Children affected with HIES 
      can develop life-threatening pulmonary infections. Pulmonary complications must 
      be identified in the early stage of the disease to treat them effectively. Hence, 
      early diagnosis and proper management are necessary. CONCLUSION: To date, 
      information about paediatric HIES is limited. This case presents the clinical 
      features, investigational procedures and management strategy for that particular 
      condition in paediatric population.
CI  - (c) 2021 The Author(s).
FAU - Bhutani, Namita
AU  - Bhutani N
AD  - Deptt. of Pathology, North DMC Medical College and Hindu Rao Hospital, New Delhi, 
      India.
FAU - Sharma, Urvashi
AU  - Sharma U
AD  - Deptt. of Pathology, North DMC Medical College and Hindu Rao Hospital, New Delhi, 
      India.
FAU - Kumar, Ashok
AU  - Kumar A
AD  - Deptt. of Pathology, North DMC Medical College and Hindu Rao Hospital, New Delhi, 
      India.
FAU - Kajal, Pradeep
AU  - Kajal P
AD  - Deptt. of Pediatric Surgery, PGIMS Rohtak, Haryana, India.
LA  - eng
PT  - Case Reports
DEP - 20210601
PL  - England
TA  - Ann Med Surg (Lond)
JT  - Annals of medicine and surgery (2012)
JID - 101616869
PMC - PMC8187933
OTO - NOTNLM
OT  - Buckley syndrome
OT  - Eosinophilia
OT  - Hyper-immunoglobulin E syndrome
OT  - Job syndrome
OT  - Primary immunodeficiency
COIS- We don't have any conflict of interest.
EDAT- 2021/06/19 06:00
MHDA- 2021/06/19 06:01
PMCR- 2021/06/01
CRDT- 2021/06/18 06:45
PHST- 2021/04/26 00:00 [received]
PHST- 2021/05/20 00:00 [revised]
PHST- 2021/05/23 00:00 [accepted]
PHST- 2021/06/18 06:45 [entrez]
PHST- 2021/06/19 06:00 [pubmed]
PHST- 2021/06/19 06:01 [medline]
PHST- 2021/06/01 00:00 [pmc-release]
AID - S2049-0801(21)00402-7 [pii]
AID - 102452 [pii]
AID - 10.1016/j.amsu.2021.102452 [doi]
PST - epublish
SO  - Ann Med Surg (Lond). 2021 Jun 1;66:102452. doi: 10.1016/j.amsu.2021.102452. 
      eCollection 2021 Jun.