PMID- 36210583
OWN - NLM
STAT- MEDLINE
DCOM- 20221020
LR  - 20221210
IS  - 1552-4876 (Electronic)
IS  - 1552-4868 (Linking)
VI  - 190
IP  - 2
DP  - 2022 Jun
TI  - Can we identify WHIM in infancy? Opportunities with the public newborn screening 
      process.
PG  - 215-221
LID - 10.1002/ajmg.c.32002 [doi]
AB  - Newborn screening (NBS) for severe combined immunodeficiency (SCID) utilizing 
      T-cell receptor excision circles (TRECs) has been implemented in all 50 states as 
      of December 2018 and has been transformative for the clinical care of SCID 
      patients. Though having high sensitivity for SCID, NBS-SCID has low specificity, 
      therefore is able to detect other causes of lymphopenia in newborns including 
      many inborn errors of immunity (IEIs). In a recent study, three of six newborns 
      later diagnosed with Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 
      (WHIM) syndrome were found to have a low TRECs and lymphopenia at birth. This 
      presents an opportunity to increase the detection and diagnosis of WHIM syndrome 
      by NBS-SCID with immunological follow-up along with a combination of flow 
      cytometry for immune cell subsets, absolute neutrophil count, and genetic 
      testing, extending beyond the conventional bone marrow studies. Coupled with 
      emerging technologies such as next-generation sequencing, transcriptomics and 
      proteomics, dried blood spots used in NBS-SCID will promote earlier detection, 
      diagnosis, and therefore treatment of IEIs such as WHIM syndrome.
CI  - (c) 2022 Wiley Periodicals LLC.
FAU - Yilmaz, Melis
AU  - Yilmaz M
AUID- ORCID: 0000-0002-8506-7372
AD  - Division of Allergy and Immunology, Department of Pediatrics and Medicine, 
      Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.
AD  - Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins All 
      Children's Hospital, St Petersburg, Florida, USA.
FAU - Potts, David Evan
AU  - Potts DE
AD  - Division of Allergy and Immunology, Department of Pediatrics and Medicine, 
      Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.
AD  - Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins All 
      Children's Hospital, St Petersburg, Florida, USA.
FAU - Geier, Christoph
AU  - Geier C
AD  - Department of Rheumatology and Clinical Immunology, University Medical Center 
      Freiburg, Freiburg, Germany.
AD  - Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, 
      Freiburg, Germany.
FAU - Walter, Jolan E
AU  - Walter JE
AUID- ORCID: 0000-0002-6192-0703
AD  - Division of Allergy and Immunology, Department of Pediatrics and Medicine, 
      Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.
AD  - Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins All 
      Children's Hospital, St Petersburg, Florida, USA.
AD  - Division of Allergy and Immunology, Massachusetts General Hospital for Children, 
      Boston, Massachusetts, USA.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20221009
PL  - United States
TA  - Am J Med Genet C Semin Med Genet
JT  - American journal of medical genetics. Part C, Seminars in medical genetics
JID - 101235745
RN  - 0 (Receptors, Antigen, T-Cell)
RN  - WHIM syndrome
SB  - IM
MH  - Infant, Newborn
MH  - Humans
MH  - Neonatal Screening
MH  - *Severe Combined Immunodeficiency/diagnosis/genetics
MH  - *Lymphopenia/diagnosis
MH  - Receptors, Antigen, T-Cell/genetics
OTO - NOTNLM
OT  - TRECs
OT  - WHIM syndrome
OT  - inborn errors of immunity
OT  - newborn screening
EDAT- 2022/10/11 06:00
MHDA- 2022/10/21 06:00
CRDT- 2022/10/10 02:04
PHST- 2022/08/30 00:00 [revised]
PHST- 2022/07/18 00:00 [received]
PHST- 2022/08/31 00:00 [accepted]
PHST- 2022/10/11 06:00 [pubmed]
PHST- 2022/10/21 06:00 [medline]
PHST- 2022/10/10 02:04 [entrez]
AID - 10.1002/ajmg.c.32002 [doi]
PST - ppublish
SO  - Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):215-221. doi: 
      10.1002/ajmg.c.32002. Epub 2022 Oct 9.