Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Feb;40(2):321-328.
doi: 10.1007/s10875-019-00739-9. Epub 2020 Jan 6.

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort With Cartilage-Hair Hypoplasia

Affiliations

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort With Cartilage-Hair Hypoplasia

Ethan M Scott et al. J Clin Immunol. .

Abstract

Cartilage-hair hypoplasia (CHH) is an autosomal recessive, short limb skeletal dysplasia with a variable immunologic phenotype. The spectrum of immune function ranges from clinically normal to severe combined immunodeficiency (SCID). Multiple studies have shown that abnormal immune parameters may not predict severe outcomes. Newborn screening (NBS) using T cell receptor excision circle (TREC) assay can now effectively identify infants with severe T cell deficiency who are at risk for SCID. NBS has allowed for cost-effective identification of patients with SCID and improved outcomes with hematopoietic stem cell transplant (HSCT). Ohio reports two abnormal TREC results: decreased and absent TREC. This study evaluated the laboratory and clinical differences in eight Amish patients with CHH with an abnormal TREC result on the NBS. There were four patients with absent TREC and four patients with decreased TREC. The absent TREC patients had lower CD3, CD4, naïve CD4, CD8 cells, and phytohemagglutinin (PHA)-induced lymphocyte proliferation. Three patients with absent TREC were diagnosed with SCID and two underwent successful HSCT. Patients with absent TREC experienced more CHH-related morbidity including anemia requiring transfusion, Hirschsprung's disease, and failure to thrive. No patients with decreased TREC required HSCT. Our study indicates that CHH patients with absent TREC tend to have more severe immunological and clinical phenotype than patients with decreased TREC. Confirmation of these trends in a larger group would guide providers and parents in a timely referral for HSCT, or cost-effective surveillance monitoring of children with a life-threatening illness.

Keywords: Cartilage-hair hypoplasia; Hematopoietic stem cell transplant; Newborn screening; SCID; Severe combined immunodeficiency; TREC.

Similar articles

See all similar articles

References

    1. Semin Perinatol. 2015 Apr;39(3):194-205 - PubMed
    1. Vaccine. 2007 May 10;25(19):3816-26 - PubMed
    1. J Pediatr. 2001 Jun;138(6):929-31 - PubMed
    1. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):131-42 - PubMed
    1. Front Immunol. 2019 Jul 16;10:1581 - PubMed

LinkOut - more resources

Feedback