Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985–2010

Lee, Wen I.; Huang, Jing; Jaing, Tang Her; Shyur, Shyh-Dar; Yang, Kun‐Lin; Chien, Yin‐Hsiu; Chiang, Bor‐Luen; Soong, Wen‐Jue; Chiou, Shyh Shin; Shieh, Chi Chang; Lin, Shinn-Kuang; Yeh, Kuo Wei; Chen, Li Chen; Ou, Liang; Yao, Tsung Chieh; Lin, Tzou Yien; Chiu, Cheng Hsun; Huang, Yhu Chering; Wu, Kang Hsi; Lin, Ching Yuang; Yu, Hsin-Hui; Yang, Yao; Yu, Hong‐Ren; Yen, Hsiu Ju; Hsieh, Meng Ying; Kuo, Ming Ling; Hwu, Wuh‐Liang; Tsai, Yi Chan; Kuo, Ho-Chang; Lin, Yi-Ling; Shih, Ying Fan; Chang, Kuei Wen

doi:10.1016/j.imbio.2011.06.002

Cited by 48 publications

(30 citation statements)

References 45 publications

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“…However, several adverse events related to or suspected to be related to BCG vaccination have been reported, especially among children who were vaccinated by the age of 1 month [17,31]. Most importantly, there have been at least three children with SCID complicated with disseminated BCG infection [9,12,32,33], and one child died of this complication. Although BCG vaccination is still recommended in Taiwan, the SCID NBS program was expected to decrease the risk of complicated disseminated BCG infection in SCID newborns.…”

Section: Bcg Policy and Impactmentioning

confidence: 99%

“…Currently, curative treatments such as hematopoietic stem cell transplantation (HSCT) [2][3][4] and gene therapy [5][6][7] can improve a patient's outcome if the treatment can be initiated before severe infections occur. Previously, a significant number of children with SCID would die before a diagnosis was made [8] or before a curative treatment could be administered [2,9,10]. Because of the burden of tuberculosis (TB) in Taiwan, all newborns receive Bacillus Calmette-Guérin (BCG) vaccination at birth to avoid TB meningitis [11].…”

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: Bcg Policy and Impactmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Chien

Lee

et al. 2017

IJNS

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“…The German and French national registry for PID reported that mutated genes were identified among 31.2 and 40% of the number of total PID patients, respectively [17,18]. In comparison with other Asian countries including Hong Kong (117 patients with 20 mutations and 5 genetic tests) [129], China (352 patients with 213 mutations and 23 genetic tests) [130], Taiwan (215 patients with 109 mutations and 22 genetic tests) [131] and India (47 patients with 19 mutations and 6 genetic tests) [132], Iran has a higher frequency of diagnosed PID patients and is the first country to publish data based on the new classification of IUIS. Although the definite molecular diagnosis rate of PID in Iran is almost similar to European countries, providing more laboratory facilities and diagnostic modalities, and developing specialized centers for PID, in addition to improvement of physicians' awareness, may lead to increased clinical and definite genetic diagnosis of PID.…”

Section: Diagnosis Of Pid In Iranmentioning

confidence: 99%

Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example

Latif

Tabassomi

Abolhassani

et al. 2014

Expert Review of Clinical Immunology

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Primary immunodeficiency diseases (PID) comprise a heterogeneous group of inherited diseases with a wide spectrum of clinical manifestations and laboratory abnormalities. Definite diagnosis of a PID is performed most reliably by detection of a gene mutation which will allow genetic counseling. In addition, detection and confirmation of PIDs that were not severe enough during childhood to lead to a specific diagnosis would be possible. As a definite diagnosis of PID is of importance for the management of these disorders, we present a review on studies that have investigated mutations among patients with different types of PID in Iran. Although the frequency of a definite molecular diagnosis of PID in Iran is acceptable in a developing country, we believe that providing additional laboratory resources and diagnostic methods, development of specialized centers for PID, in addition to improvement of physicians' awareness, may facilitate clinical and genetic diagnosis of patients with PID in Iran.

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“…27 Patients with CGD have a broader susceptibility to multiple pathogens, often presenting as mucocutaneous infections and pneumonia caused by Staphylococcus aureus, Candida albicans, and Aspergillus spp. 22,28 In a report of 73 predominantly nonChinese CGD patients with a focus on mycobacterial infections, 29 there were BCGinduced diseases in 38 patients, tuberculosis in 16, both tuberculosis and BCG-induced disease in seven, mycobacterium species in seven, and environmental or nontuberculosis mycobacteria (NTM) in four. Among them, nine patients were otherwise healthy and had isolated mycobacterial diseases, including tuberculosis in six patients (disseminated in three and pulmonary in three) and BCGinduced disease in three (two BCGosis and one BCGitis).…”

Section: Broad Predisposition To Multiple and Mycobacterial Infectionsmentioning

confidence: 99%

Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs)

Lee

Huang

Yeh

et al. 2011

Journal of the Formosan Medical Association

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Natural human immunity to the mycobacteria group, including Mycobacterium tuberculosis, Bacille Calmette-Guérin (BCG) or nontuberculous mycobacteria (NTM), and/or Salmonella species, relies on the functional IL-12/23-IFN-γ integrity of macrophages (monocyte/dendritic cell) connecting to T lymphocyte/NK cells. Patients with severe forms of primary immunodeficiency diseases (PIDs) have more profound immune defects involving this impaired circuit in patients with severe combined immunodeficiencies (SCID) including complete DiGeorge syndrome, X-linked hyper IgM syndrome (HIGM) (CD40L mutation), CD40 deficiency, immunodeficiency with or without anhidrotic ectodermal dysplasia (NEMO and IKBA mutations), chronic granulomatous disease (CGD) and hyper IgE recurrent infection syndromes (HIES). The patients with severe PIDs have broader diverse infections rather than mycobacterial infections. In contrast, patients with an isolated inborn error of the IL-12/23-IFN-γ pathway are exclusively prone to low-virulence mycobacterial infections and nontyphoid salmonella infections, known as Mendelian susceptibility to the mycobacterial disease (MSMD) phenotype. Restricted defective molecules in the circuit, including IFN-γR1, IFN-γR2, IL-12p40, IL-12R-β1, STAT-1, NEMO, IKBA and the recently discovered CYBB responsible for autophagocytic vacuole and proteolysis, and interferon regulatory factor 8 (IRF8) for dendritic cell immunodeficiency, have been identified in around 60% of patients with the MSMD phenotype. Among all of the patients with PIDs referred for investigation since 1985, we have identified four cases with the specific defect (IFNRG1 for three and IL12RB for one), presenting as both BCG-induced diseases and NTM infections, in addition to some patients with SCID, HIGM, CGD and HIES. Furthermore, manifestations in patients with autoantibodies to IFN-γ (autoAbs-IFN-γ), which is categorized as an anticytokine autoantibody syndrome, can resemble the relatively persistent MSMD phenotype lacking BCG-induced diseases.

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Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985–2010

Cited by 48 publications

References 45 publications

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example

Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs)

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