Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India.
Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India.
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DOI：
10.3389/fimmu.2021.627651
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发表时间：
2021
影响因子：
7.3
通讯作者：
Singh S
中科院分区：
文献类型：
--
作者：
Suri D;Rikhi R;Jindal AK;Rawat A;Sudhakar M;Vignesh P;Gupta A;Kaur A;Sharma J;Ahluwalia J;Bhatia P;Khadwal A;Raj R;Uppuluri R;Desai M;Taur P;Pandrowala AA;Gowri V;Madkaikar MR;Lashkari HP;Bhattad S;Kumar H;Verma S;Imai K;Nonoyama S;Ohara O;Chan KW;Lee PP;Lau YL;Singh S
Wiskott Aldrich综合征以出血、反复感染、湿疹、自身免疫性和恶性为特征。在过去的十年里，印度几个中心提高了认识和更好的内部诊断设施，从而增加了对IS的认识。这项研究报告了印度主要的原发免疫缺陷疾病(PID)中心的数据，这些中心参与了对患有风湿病的儿童的护理，并强调了印度患者的不同临床表现、遗传特征和结果。共享数据的请求被发送到印度的多个中心，这些中心参与了对PID患者的护理和管理。六个中心提供了必要的数据，并对这些数据进行了汇编和分析。在这个多机构队列中，收到了108名被初步诊断为AS的患者的临床细节。其中95例明确为“is”，14例为XLT，81例为as is。患者出现症状的中位年龄为3个月(IQR1.6，6.0个月)，确诊时的中位年龄为12个月(IQR6，48个月)。临床表现包括出血(92.6%)、感染(84.2%)、湿疹(78.9%)、各种自身免疫表现(40%)和恶性(2.1%)。DNA分析发现67例中有47个变异。无义和错义变异最常见(各占28.4%)，其次是小缺失(19.4%)和剪接位点缺陷(16.4%)。我们还报告了24个新的变体，其中大多数是移码和无义突变，导致蛋白质合成提前终止。预防性静脉注射免疫球蛋白(IVIg)52例(54.7%)。造血干细胞移植(HSCT)25例(26.3%)。在移植的患者中，有15名患者无病存活(60%)。移植相关死亡率为36%。有89名患者的结果细节可用。在这些人中，37%在本分析之前已经死亡。中位随访时间为36个月(2周~12年；IQR 16.2个月~70个月)。我们报告了第一个来自印度的全国AS患者队列。出血发作和感染是常见的表现。死亡率仍然很高，因为我们的大多数患者无法获得根治疗法。
Wiskott Aldrich syndrome (WAS) is characterized by bleeding manifestations, recurrent infections, eczema, autoimmunity, and malignancy. Over the last decade, improved awareness and better in-house diagnostic facilities at several centers in India has resulted in increased recognition of WAS. This study reports collated data across major primary immunodeficiency diseases (PID) centers in India that are involved in care of children with WAS and highlights the varied clinical presentations, genetic profile, and outcomes of patients in India. Request to share data was sent to multiple centers in India that are involved in care and management of patients with PID. Six centers provided requisite data that were compiled and analyzed. In this multi-institutional cohort, clinical details of 108 patients who had a provisional diagnosis of WAS were received. Of these, 95 patients with ‘definite WAS’ were included Fourteen patients were classified as XLT and 81 patients as WAS. Median age at onset of symptoms of patients was 3 months (IQR 1.6, 6.0 months) and median age at diagnosis was 12 months (IQR 6,48 months). Clinical profile included bleeding episodes (92.6%), infections (84.2%), eczema (78.9%), various autoimmune manifestations (40%), and malignancy (2.1%). DNA analysis revealed 47 variants in 67 cases. Nonsense and missense variants were the most common (28.4% each), followed by small deletions (19.4%), and splice site defects (16.4%). We also report 24 novel variants, most of these being frameshift and nonsense mutations resulting in premature termination of protein synthesis. Prophylactic intravenous immunoglobulin (IVIg) was initiated in 52 patients (54.7%). Hematopoietic stem cell transplantation (HSCT) was carried out in 25 patients (26.3%). Of those transplanted, disease-free survival was seen in 15 patients (60%). Transplant related mortality was 36%. Outcome details were available for 89 patients. Of these, 37% had died till the time of this analysis. Median duration of follow-up was 36 months (range 2 weeks- 12 years; IQR 16.2 months- 70 months). We report the first nationwide cohort of patients with WAS from India. Bleeding episodes and infections are common manifestations. Mortality continues to be high as curative therapy is not accessible to most of our patients.
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影响因子：
20.3
作者：
Lorenzi, R;Brickell, PM;Thrasher, AJ
通讯作者：
Thrasher, AJ
DOI：
10.4274/tjh.galenos.2020.2020.0334
发表时间：
2020-11-19
期刊：
Turkish journal of haematology : official journal of Turkish Society of Haematology
影响因子：
--
作者：
Haskoloğlu Ş;Öztürk A;Öztürk G;Kostel Bal S;İslamoğlu C;Baskın K;Ceylaner S;Tufan Satıroğlu L;Doğu F;İkincioğulları A
通讯作者：
İkincioğulları A
影响因子：
0.8
作者：
Kaneko R;Yamamoto S;Okamoto N;Akiyama K;Matsuno R;Toyama D;Hoshino A;Imai K;Isoyama K
通讯作者：
Isoyama K
影响因子：
4.4
作者：
KWAN, SP;LEHNER, T;ROSEN, FS
通讯作者：
ROSEN, FS
影响因子：
1.6
作者：
Kaushik, Sushmita;Singh, Ramandeep;Pandav, Surinder Singh
通讯作者：
Pandav, Surinder Singh