PMID- 33734873
OWN - NLM
STAT- MEDLINE
DCOM- 20211112
LR  - 20220302
IS  - 2151-3228 (Electronic)
IS  - 2151-321X (Print)
IS  - 2151-321X (Linking)
VI  - 34
IP  - 1
DP  - 2021 Mar
TI  - Pulmonary Infections and Surgical Complications in a Young Girl with Signal 
      Transducer and Activator of Transcription 3 Loss-of-Function Mutation 
      Hyperimmunoglobulin E Syndrome: A Case Report.
PG  - 33-37
LID - 10.1089/ped.2020.1225 [doi]
AB  - Introduction: Hyperimmunoglobulin E syndromes (HIESs) are characterized by a high 
      serum immunoglobulin E (IgE) level, eczematoid rashes, recurrent staphylococcal 
      skin abscesses, and recurrent pneumonia and pneumatocele formation. Autosomal 
      dominant HIES is the most common form of HIES and mainly occurs due to 
      loss-of-function mutations in the Signal Transducer and Activator of 
      Transcription 3 (STAT3) gene (STAT3 LOF). Case Presentation: We report the case 
      of an 11-year-old Peruvian girl diagnosed with STAT3 LOF caused by p.R382W 
      mutation. She presented with recurrent staphylococcal pneumonia and empyema 
      caused by the rarely reported Achromobacter xylosoxidans, which led to severe 
      destruction of the lung parenchyma, multiple lung surgeries, and the development 
      of bronchopleural fistulas. A laparotomy was also performed, which showed 
      evidence of sigmoid colon perforation. The patient received immunoglobulin 
      replacement therapy (IRT) and antibiotic prophylaxis, and the frequency of her 
      infections has decreased over the past 3 years. Conclusion: This is the first 
      case of STAT3 LOF diagnosed by genomic sequencing in Peru. Patients with this 
      mutation have recurrent pulmonary infections, and require multiple surgical 
      procedures with frequent complications. A. xylosoxidans infection could be 
      related to the prolonged stay in intensive care leading to high mortality; 
      therefore, additional care must be taken when treating patients with this 
      infection. In addition, colonic perforation is a rare complication in STAT3 LOF 
      patients. IRT and antibiotic prophylaxis appear to decrease the frequency of 
      infections and hospitalizations.
FAU - Toribio-Dionicio, Crhistian
AU  - Toribio-Dionicio C
AD  - Faculty of Medicine, Universidad Nacional Mayor de San Marcos (UNMSM), Lima, 
      Peru.
FAU - Cubas-Guzman, Dania
AU  - Cubas-Guzman D
AD  - Faculty of Medicine, Universidad Nacional Mayor de San Marcos (UNMSM), Lima, 
      Peru.
FAU - Guerra-Canchari, Pedro
AU  - Guerra-Canchari P
AD  - Sociedad Cientifica de San Fernando, Faculty of Medicine, Universidad Nacional 
      Mayor de San Marcos (UNMSM), Lima, Peru.
FAU - Garcia-Sanchez, Vanuza
AU  - Garcia-Sanchez V
AD  - Hospital Amazonico de Yarinacocha, Pucallpa, Peru.
FAU - Cordova-Calderon, Wilmer
AU  - Cordova-Calderon W
AD  - Unidad Funcional de Alergia, Asma e Inmunologia (UFAAI), Instituto Nacional de 
      Salud del Nino (INSN), Lima-Brena, Peru.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Pediatr Allergy Immunol Pulmonol
JT  - Pediatric allergy, immunology, and pulmonology
JID - 101549629
RN  - 0 (STAT3 Transcription Factor)
RN  - 0 (STAT3 protein, human)
RN  - 37341-29-0 (Immunoglobulin E)
SB  - IM
MH  - Achromobacter denitrificans/*isolation & purification
MH  - Child
MH  - Empyema/diagnosis/*microbiology
MH  - Humans
MH  - Immunoglobulin E/genetics
MH  - Job Syndrome/*diagnosis/*genetics
MH  - *Loss of Function Mutation
MH  - Male
MH  - Mutation
MH  - Pneumonia, Staphylococcal/microbiology/*surgery
MH  - Postoperative Cognitive Complications
MH  - STAT3 Transcription Factor/*genetics
MH  - Sequence Analysis, DNA
PMC - PMC8082030
OTO - NOTNLM
OT  - STAT3
OT  - autosomal dominant HIES
OT  - lung disease
OT  - primary immunodeficiency diseases
OT  - pulmonary surgical procedure
COIS- No competing financial interests exist.
EDAT- 2021/03/19 06:00
MHDA- 2021/11/16 06:00
PMCR- 2022/03/01
CRDT- 2021/03/18 17:21
PHST- 2021/03/18 17:21 [entrez]
PHST- 2021/03/19 06:00 [pubmed]
PHST- 2021/11/16 06:00 [medline]
PHST- 2022/03/01 00:00 [pmc-release]
AID - 10.1089/ped.2020.1225 [pii]
AID - 10.1089/ped.2020.1225 [doi]
PST - ppublish
SO  - Pediatr Allergy Immunol Pulmonol. 2021 Mar;34(1):33-37. doi: 
      10.1089/ped.2020.1225.