PMID- 29922491
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 2157-6998 (Print)
IS  - 2157-7005 (Electronic)
IS  - 2157-7005 (Linking)
VI  - 8
IP  - 2
DP  - 2018 Apr
TI  - Immunological Emergency in Neonate: Case Report and Role of Early Screening.
PG  - e134-e137
LID - 10.1055/s-0038-1645878 [doi]
AB  - Healthy looking newborns may have severe combined immunodeficiency (SCID), and 
      neonatologists frequently are the first physicians to encounter these patients. 
      Physicians usually have a high index of suspicion for this condition in presence 
      of certain risk factors (unexplained infants' deaths, consanguinity); however, 
      >80% of infants with SCID have no positive family history. A timely diagnosis of 
      this condition is crucial in decreasing both mortality and morbidity. The only 
      way to detect SCID prior to the onset of infections is newborn screening (NBS). 
      In term infants, NBS has 99.99% sensitivity for SCID, with no false negatives. In 
      preterm infants, screening is less accurate due to a lack of standard T cell 
      receptor excision circle (TREC) values in this age group. We report a case of 
      SCID in term infants born to consanguineous parents who were presented with 
      clinical and laboratory findings of erythroderma, severe infection, failure to 
      thrive, eosinophilia, and elevated immunoglobulin E (IgE) together with 
      immunodeficiency. A timely diagnosis was followed by successful hematopoietic 
      stem cell transplantation (HSCT) therapy.
FAU - Samedi, Veronica Mugarab
AU  - Samedi VM
AD  - Department of Neonatology, Peter Lougheed Hospital, Calgary, Alberta, Canada.
AD  - Section of Neonatology, Foothills Medical Centre, University of Calgary, Calgary, 
      Alberta, Canada.
AD  - Faculty of Pediatrics, University of Calgary Cumming School of Medicine, Calgary, 
      Alberta, Canada.
FAU - Shafey, Amy
AU  - Shafey A
AD  - Section of Neonatology, Foothills Medical Centre, University of Calgary, Calgary, 
      Alberta, Canada.
FAU - Al Awad, Essa
AU  - Al Awad E
AD  - Section of Neonatology, Foothills Medical Centre, University of Calgary, Calgary, 
      Alberta, Canada.
FAU - Favela, Luis Murguia
AU  - Favela LM
AD  - Faculty of Pediatrics, University of Calgary Cumming School of Medicine, Calgary, 
      Alberta, Canada.
LA  - eng
PT  - Case Reports
DEP - 20180618
PL  - United States
TA  - AJP Rep
JT  - AJP reports
JID - 101569862
PMC - PMC6005782
OTO - NOTNLM
OT  - SCID
OT  - TREC
OT  - immunodeficiency
OT  - neonate
OT  - screening
OT  - stem cells
COIS- Conflict of Interest None.
EDAT- 2018/06/21 06:00
MHDA- 2018/06/21 06:01
PMCR- 2018/04/01
CRDT- 2018/06/21 06:00
PHST- 2017/10/04 00:00 [received]
PHST- 2018/01/04 00:00 [accepted]
PHST- 2018/06/21 06:00 [entrez]
PHST- 2018/06/21 06:00 [pubmed]
PHST- 2018/06/21 06:01 [medline]
PHST- 2018/04/01 00:00 [pmc-release]
AID - 170061 [pii]
AID - 10.1055/s-0038-1645878 [doi]
PST - ppublish
SO  - AJP Rep. 2018 Apr;8(2):e134-e137. doi: 10.1055/s-0038-1645878. Epub 2018 Jun 18.