Incidence of severe combined immunodeficiency through newborn screening in a Chinese population

Chien, Yin‐Hsiu; Chiang, Shu-Chuan; Chang, Ko‐Wei; Yu, Hsin-Hui; Lee, Wen-I; Tsai, Li-Ping; Hsu, Li-Wen; Hu, Min-Huei; Hwu, Wuh‐Liang

doi:10.1016/j.jfma.2012.10.020

Cited by 55 publications

(40 citation statements)

References 12 publications

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“…Our pilot study detected two patients with SCID and five with 22q11.2 deletion syndrome from a total of 106,391 newborns screened [15]. These results led to a country-wide voluntary SCID newborn screening executed by all three newborn screening centers, including the NTUH.…”

Section: Updated Results Of Screeningmentioning

confidence: 88%

“…Mitogen proliferation is only performed when the flow quantitation is abnormal without recognizable etiologies, and for infants with 22q11.2 deletion syndrome. In addition, for all newborns with abnormal results, NTUH checks the original DBS by a TUPLE1 gene copy number analysis for chromosome 22q11.2 deletion [15]. If the sample is positive for the TUPLE1 deletion, the diagnosis would be confirmed in a second blood sample by multiplex ligation-dependent probe amplification (MLPA) [15].…”

Section: Updated Results Of Screeningmentioning

confidence: 99%

“…In addition, for all newborns with abnormal results, NTUH checks the original DBS by a TUPLE1 gene copy number analysis for chromosome 22q11.2 deletion [15]. If the sample is positive for the TUPLE1 deletion, the diagnosis would be confirmed in a second blood sample by multiplex ligation-dependent probe amplification (MLPA) [15]. MLPA is the preferred test for newborns suspecting 22q11.2 deletion due to low TREC numbers or due to the clinical presentations.…”

Section: Updated Results Of Screeningmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…In 2010, the National Taiwan University Hospital (NTUH) Newborn Screening Center initiated a pilot newborn screening program for SCID by measuring the T-cell receptor excision circle (TREC) copy number [15]. This program successfully identified patients with SCID and other conditions causing T-cell lymphopenia and therefore allowed patients to receive appropriate prophylaxis against infections and early institution of HSCT [15,16]. The Taiwan Advisory Committee on Immunization Practices (ACIP) therefore delayed the timing of BCG vaccination in 2012, when SCID screening became available nationwide in order to allow for the screening results to be obtained prior to immunization, while maintaining the protection of babies against TB meningitis.…”

Section: Introductionmentioning

confidence: 99%

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Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Chien

Lee

et al. 2017

IJNS

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A study of newborn screening for severe combined immunodeficiency (SCID) by detecting the T-cell receptor excision circle (TRECs) copy number in dried blood spots (DBSs) collected from newborns 3 days of age began in 2010 in Taiwan, and SCID screening was subsequently implemented country-wide in 2012. A total of 920,398 newborns were screened during a period of 78 months. Of these, 175 newborns (0.02%) were requested to undergo an immune function survey, and 136 cases (1 in 6768 newborns) were ultimately diagnosed as having T cell lymphopenia. The screening detected seven cases of typical SCID, with an incidence of 1 in 131,485 newborns (95% confidence interval, 1/63,693~1/271,434). Hematopoietic stem cell transplantation was performed in six patients before overt infection occurred, and the survival rate was 100%. The screening also detected eight cases of SCID variants and 20 cases of 22q11.2 deletion syndrome. Other etiologies of T lymphopenia were identified, and those newborns were evaluated and managed according to their immunological status. Owing to the introduction of newborn screening by measuring the TREC copy number, early administration of treatments became possible for newborns with conditions that put them at risk of primary or secondary immunodeficiency.

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Section: Updated Results Of Screeningmentioning

confidence: 88%

Section: Updated Results Of Screeningmentioning

confidence: 99%

Section: Updated Results Of Screeningmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Chien

Lee

et al. 2017

IJNS

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Developmental trajectories in 22q11.2 deletion syndrome

Swillen¹,

McDonald‐McGinn²

2015

American J of Med Genetics Pt C

154

171

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Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,000–4,000 live births and involving haploinsufficiency of ∼50 genes resulting in a multisystem disorder. Phenotypic expression is highly variable and ranges from severe life-threatening conditions to only a few associated features. Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most frequently velopharyngeal incompetence (VPI); immunodeficiency; hypocalcemia due to hypoparathyroidism; genitourinary anomalies; severe feeding/gastrointestinal differences; and subtle dysmorphic facial features. The neurocognitive profile is also highly variable, both between individuals and during the course of development. From infancy onward, motor delays (often with hypotonia) and speech/language deficits are commonly observed. During the preschool and primary school ages, learning difficulties are very common. The majority of patients with 22q11.2DS have an intellectual level that falls in the borderline range (IQ 70–84), and about one-third have mild to moderate intellectual disability. More severe levels of intellectual disability are uncommon in children and adolescents but are more frequent in adults. Individuals with 22q11.2DS are at an increased risk for developing several psychiatric disorders including attention deficit with hyperactivity disorder (ADHD), autism spectrum disorder (ASD), anxiety and mood disorders, and psychotic disorders and schizophrenia. In this review, we will focus on the developmental phenotypic transitions regarding cognitive development in 22q11.2DS from early preschool to adulthood, and on the changing behavioral/psychiatric phenotype across age, on a background of frequently complex medical conditions.

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Non‐conditioned cord blood transplantation for infection control in athymic CHARGE syndrome

Sonoda,

Ishimura,

Inoue

et al. 2023

Pediatric Blood & Cancer

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ObjectiveCHARGE syndrome is a congenital malformation syndrome caused by heterozygous mutations in the CHD7 gene. Severe combined immunodeficiency (SCID) arises from congenital athymia called CHARGE/complete DiGeorge syndrome. While cultured thymus tissue implantation (CTTI) provides an immunological cure, hematopoietic cell transplantation (HCT) is an alternative option for immuno‐reconstitution of affected infants. We aimed to clarify the clinical outcomes of patients with athymic CHARGE syndrome after HCT.MethodsWe studied the immunological reconstitution and outcomes of four patients who received non‐conditioned unrelated donor cord blood transplantation (CBT) at Kyushu University Hospital from 2007 to 2022. The posttransplant outcomes were compared with the outcomes of eight reported patients.ResultsFour index cases received CBT 70–144 days after birth and had no higher than grade II acute graft‐versus‐host disease. One infant was the first newborn‐screened athymic case in Japan. They achieved more than 500/μL naïve T cells with balanced repertoire 1 month post transplant, and survived more than 12 months with home care. Twelve patients including the index cases received HCT at a median 106 days after birth (range: 70–195 days). One‐year overall survival rate was significantly higher in patients who underwent non‐conditioned HCT than in those who received conditioned HCT (100% vs. 37.5%, p = .02). Nine patients died, and the major cause of death was cardiopulmonary failure.ConclusionsAthymic infants achieved a prompt reconstitution of non‐skewing naïve T cells after non‐conditioned CBT that led to home care in infancy without significant infections. Non‐conditioned CBT is a useful bridging therapy for newborn‐screened cases toward an immunological cure by CTTI.

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Incidence of severe combined immunodeficiency through newborn screening in a Chinese population

Cited by 55 publications

References 12 publications

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Developmental trajectories in 22q11.2 deletion syndrome

Non‐conditioned cord blood transplantation for infection control in athymic CHARGE syndrome

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