In the manuscript “In time: The value and global implications of newborn screening for severe combined immunodeficiency”, DOI: 10.1590/1984-0462/;2018;36;4;00020, published in the Rev Paul Pediatr. 2018;36(4):388-397:
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Cristina Meehana
Jolan Walter
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Cristina A. Meehan
Jolan E. Walter
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Figure 1. Timeline of severe combined immunodeficiency therapy.
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Figure 1. History of severe combined immunodeficiency therapy.
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Table 1. Genetic background of severe combined immunodeficiency (SCID) listed by immunological phenotype.
| Immunological Phenotype | Gene Product | |
| T-B-NK+ | DCLRE1 (ARTEMIS) | }V(D)J recombination |
| DNAPKcs | ||
| LIG4 | ||
| PGM3 | ||
| RAG1, RAG2 | ||
| XLF (NHEJ1, Cernunnos) | ||
| T-B+NK+ | CD3δ | |
| CORO1A | ||
| IL-7R | ||
| FOXN1 | ||
| 2q11 deletion (full DeGeorge syndrome) | ||
| TBX1 | ||
| LAT | ||
| T-B+NK- | IL2RG “common γ chain | |
| JAK3 Janus kinase 3 | ||
| PNP | ||
| T-B-NK- | ADA | |
| AK2 | ||
| T-B-/+NK+/low | CD45 | |
| T-B+NK+/low | RPP25 (RMRP) | |
| T+B-NK- | Hoyeraal-Hreidarsson Syndrome DKC1 (dyskeratin), TERT, TINF2, DCLRE1B (Apollo) | |
T-B-NK+ Immunological Phenotype: DCLRE1: DNA cross-link repair 1C (artemis); DNA-PKcs: DNA-dependent protein kinase, catalytic subunit; LIG4: DNA ligase IV; XLF: XRCC4-like factor (Cernunnos) or NHEJ1: non-homologous end-joining factor; RAG1: recombination activating gene 1; RAG2: recombination activating gene 2; PMG3: phosphoglucomutase 3.
T-B+NK+ Immunological Phenotype: CD3δ: cluster of differentiation 3 delta chain; CORO1A: coronin-1A; IL-7R: interleukin-7 receptor; FOXN1: forkhead box N1; 22q11.2 deletion (Full DiGeorge Syndrome); TBX1: T-box 1; LAT: linker for activation of T-cells; T-B+NK- Immunological Phenotype.
IL2RG: interleukin 2 receptor subunit gamma (“common γ chain”); JAK3: Janus kinase 3; PNP: purine nucleoside phosphorylase; ADA: adenosine deaminase deficiency; AK2: adenylate kinase 2; CD45: cluster of differentiation (leukocyte common antigen); RMRP: RNA component of mitochondrial RNA processing endoribonuclease; DKC1: dyskerin pseudouridine synthase 1; TERT: Telomerase reverse transcriptase; TINF2: TERF1-interacting nuclear factor 2; DCLRE1B: DNA cross-link repair 1B protein (apollo).
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Table 1. Genetic background of severe combined immunodeficiency (SCID) listed by immunological phenotype.
| Immunological Phenotype | Gene Product | |
|---|---|---|
| T-B-NK+ | DCLRE1C (ARTEMIS) | }V(D)J recombination |
| DNA-PKcs | ||
| LIG4 | ||
| PGM3 | ||
| RAG1, RAG2 | ||
| XLF (NHEJ1, Cernunnos) | ||
| T-B+NK+ | CD3δ | |
| CORO1A | ||
| IL-7R | ||
| FOXN1 | ||
| 22q11.2 deletion (full DiGeorge syndrome) | ||
| TBX1 | ||
| LAT | ||
| T-B-NK+ | IL2RG | |
| JAK3 | ||
| T-B-NK- | PNP | |
| ADA | ||
| AK2 | ||
| T-B-/+NK+/low | CD45 | |
| T-B+NK+/low | RPP25 (RMRP) | |
| T+B-NK- | Hoyeraal-Hreidarsson Syndrome DKC1 (dyskerin), TERT, TINF2, DCLRE1B (Apollo) | |
T-B-NK+: T and B cell negative, natural killer cell positive; DCLRE1: DNA cross-link repair 1C (artemis); DNA-PKcs: DNA-dependent protein kinase, catalytic subunit; LIG4: DNA ligase IV; XLF: XRCC4-like factor (Cernunnos) or NHEJ1: non-homologous end-joining factor; RAG1: recombination activating gene 1; RAG2: recombination activating gene 2; PMG3: phosphoglucomutase 3.
CD3δ: cluster of differentiation 3 delta chain; CORO1A: coronin-1A; IL-7R: interleukin-7 receptor; FOXN1: forkhead box N1; 22q11.2 deletion (Full DiGeorge Syndrome); TBX1: T-box 1; LAT: linker for activation of T cells; IL2RG: interleukin 2 receptor subunit gamma (“common γ chain”); JAK3: Janus kinase 3; PNP: purine nucleoside phosphorylase;
ADA: adenosine deaminase deficiency; AK2: adenylate kinase 2; CD45: cluster of differentiation (leukocyte common antigen 45); RMRP: RNA component of mitochondrial RNA processing endoribonuclease; DKC1: dyskerin pseudouridine synthase 1; TERT: Telomerase reverse transcriptase; TINF2: TERF1-interacting nuclear factor 2; DCLRE1B: DNA cross-link repair 1B protein (Apollo).
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However, since the implementation of SCID NBS depends on state legislatures, the implementation time is variable across the United States. Since the first pilot program began in Wisconsin in 2009, 47 of the 50 states, the District of Columbia and Puerto Rico have sequentially implemented or have committed to implement SCID NBS (Jeffrey Modell Foundation; Figure 2).11,29,30
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Since the first pilot program began in Wisconsin in 2008, all 50 states, the District of Columbia and Puerto Rico have sequentially implemented SCID NBS (Immune Deficiency Foundation, Jeffrey Modell Foundation; Figure 2A)11,29,30
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Figure 2. Severe combined immunodeficiency newborn screening implementation worldwide as of August 2018.30 .
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Figure 2. Severe combined immunodeficiency newborn screening implementation in the United States* (A) and worldwide30 (B) by December 2018.
*Immune Deficiency Foundation. SCID Newborn Screening: Current Status of Implementation Map [Internet]. December 2018 [cited on December 21, 2018]. Available at: https://primaryimmune.org/idf-advocacy-center/idf-scid-newborn-screening-campaign.
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[...] Analysis of screening of three million newborns for SCID after the initiation of SCID NBS confirmed a higher-than-expected prevalence of 1:58,000, increasing from 1:100,000 in 2009 prior to NBS. [...]
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[...] Analysis of screening of three million newborns for SCID after the initiation of SCID NBS confirmed a higher-than-expected prevalence of 1:58,000, increasing from 1:100,000 in 2008 prior to NBS.25 [...]
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We thank and acknowledge Dr. Jane Carver from the University of South Florida, for their assistance in the editing of this document.
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We thank and acknowledge Dr. Jane Carver from theUniversity of South Florida for assistance in editing this document.
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30. Jeffrey Modell Foundation. Newborn screening for SCID. Update on the implementation of newborn screening for SCID in the United States [Internet]. August 2018 [cited on Sept. 25, 2018]. Available at: http://www.info4pi.org/ town-hall/newborn-screening
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30. Adapted from Jeffrey Modell Foundation. Newborn screening for SCID. Update on the implementation of newborn screening for SCID in the United States [Internet]. December 2018 [cited on January 13, 2019]. Available at: http://www.info4pi.org/ town-hall/newborn-screening.