PMID- 29505141
OWN - NLM
STAT- MEDLINE
DCOM- 20200225
LR  - 20200225
IS  - 1941-2444 (Electronic)
IS  - 0148-6071 (Linking)
VI  - 42
IP  - 1
DP  - 2018 Jan
TI  - High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns 
      with Severe Intestinal Failure.
PG  - 239-246
LID - 10.1002/jpen.1013 [doi]
AB  - PURPOSE: Severe combined immunodeficiency (SCID) screening by T-cell receptor 
      excision circles (TREC) has been part of Massachusetts routine newborn screening 
      since 2009. Tetratricopeptide repeat domain 7A gene (TTC7A) mutations responsible 
      for hereditary multiple intestinal atresia with combined immunodeficiency 
      (MIA-CID) were also recently identified. We reviewed newborn SCID screening among 
      infants with intestinal failure and correlated results with patient 
      characteristics and outcomes. METHODS: Records of infants with severe intestinal 
      failure and available newborn screen results treated at a single center 2009-2016 
      were reviewed retrospectively. Patients with 1 or more positive SCID screens 
      (<252 TREC copies/muL) were compared with those without positive screens. TREC 
      copies/muL were compared with population norms. RESULTS: Of 70 included infants, 
      34% had newborn screens with TREC <252 copies/muL, compared with 0.3% of the 
      general population; TREC levels for the cohort were lower than the general 
      population (p<0.001). Of those with positive screens, 42% had prior or subsequent 
      negative screening, 8% had no further workup, and 50% had flow cytometry showing: 
      severe T-cell lymphopenia (absolute CD3+ <1500 cells/mcL) in 8, 3 of whom had 
      TTC7A mutation-associated MIA-CID. Four had CD3+ >1500 cells/mcL. MIA-CID 
      patients had the lowest serum citrulline in the cohort; 4 of the 8 patients with 
      CD3+ <1500 cells/mcL on flow cytometry had newborn screening notable for severe 
      hypocitrullinemia (<3 muM). CONCLUSION: Infants with intestinal failure have lower 
      TREC copies/muL than the general population; one-third had levels concerning for 
      SCID, and 11% were diagnosed with severe T-cell lymphopenia. The clinical 
      implications and etiology of this phenomenon remain unknown, but may be related 
      to hypocitrullinemia.
CI  - (c) 2017 American Society for Parenteral and Enteral Nutrition.
FAU - Fullerton, Brenna S
AU  - Fullerton BS
AD  - Center for Advanced Intestinal Rehabilitation, Boston Children's Hospital, 
      Boston, MA, USA.
AD  - Department of Surgery, Boston Children's Hospital, Boston, MA, USA.
AD  - Harvard Medical School, Boston, MA, USA.
FAU - Velazco, Cristine S
AU  - Velazco CS
AD  - Center for Advanced Intestinal Rehabilitation, Boston Children's Hospital, 
      Boston, MA, USA.
AD  - Department of Surgery, Boston Children's Hospital, Boston, MA, USA.
AD  - Harvard Medical School, Boston, MA, USA.
FAU - Hong, Charles R
AU  - Hong CR
AD  - Center for Advanced Intestinal Rehabilitation, Boston Children's Hospital, 
      Boston, MA, USA.
AD  - Department of Surgery, Boston Children's Hospital, Boston, MA, USA.
AD  - Harvard Medical School, Boston, MA, USA.
FAU - Carey, Alexandra N
AU  - Carey AN
AD  - Center for Advanced Intestinal Rehabilitation, Boston Children's Hospital, 
      Boston, MA, USA.
AD  - Division of Gastroenterology, Hepatology and Nutrition, Boston Children's 
      Hospital, Boston, MA, USA.
AD  - Harvard Medical School, Boston, MA, USA.
FAU - Jaksic, Tom
AU  - Jaksic T
AD  - Center for Advanced Intestinal Rehabilitation, Boston Children's Hospital, 
      Boston, MA, USA.
AD  - Department of Surgery, Boston Children's Hospital, Boston, MA, USA.
AD  - Harvard Medical School, Boston, MA, USA.
LA  - eng
PT  - Journal Article
DEP - 20171213
PL  - United States
TA  - JPEN J Parenter Enteral Nutr
JT  - JPEN. Journal of parenteral and enteral nutrition
JID - 7804134
SB  - IM
MH  - Cohort Studies
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Intestinal Diseases/*complications/*pathology
MH  - Intestines/pathology
MH  - Male
MH  - Neonatal Screening/*methods
MH  - Retrospective Studies
MH  - Severe Combined Immunodeficiency/*complications/*diagnosis
OTO - NOTNLM
OT  - SCID
OT  - TRECs
OT  - citrulline
OT  - intestinal failure
OT  - newborn screening
OT  - short bowel syndrome
EDAT- 2018/03/06 06:00
MHDA- 2020/02/26 06:00
CRDT- 2018/03/06 06:00
PHST- 2017/04/13 00:00 [received]
PHST- 2017/08/22 00:00 [revised]
PHST- 2017/09/07 00:00 [accepted]
PHST- 2018/03/06 06:00 [entrez]
PHST- 2018/03/06 06:00 [pubmed]
PHST- 2020/02/26 06:00 [medline]
AID - 10.1002/jpen.1013 [doi]
PST - ppublish
SO  - JPEN J Parenter Enteral Nutr. 2018 Jan;42(1):239-246. doi: 10.1002/jpen.1013. 
      Epub 2017 Dec 13.