A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.

IF 7.2 2区 医学 Q1 IMMUNOLOGY Journal of Clinical Immunology Pub Date : 2024-11-05 DOI:10.1007/s10875-024-01816-4
Canan Caka, Damla Nur Ergenoğlu, Nidanur Sinanoğlu, Ibrahim Cemal Maslak, Hacer Neslihan Bildik, Begüm Çiçek, Saliha Esenboga, Ilhan Tezcan, Deniz Cagdas
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Abstract

Chronic neutropenia causes involve nutritional deficiencies and inborn errors of immunity(IEI), such as severe congenital neutropenia. To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002-2022. We recorded clinical/laboratory features and genetic characteristics. The male/female ratio was 63/46. Fifty-eight patients had parental consanguinity(57.4%). 26.6% (n = 29) patients had at least one individual in their family with neutropenia. Common symtpoms at presentation were upper respiratory tract infections(URTI)(31.1%), oral aphthae(23.6%), skin infections(23.6%), pneumonia(20.8%), and recurrent abscesses(12.3%). Common infections during follow-up were URTI(56.8%), pneumonia(33%), skin infections(25.6%), gastroenteritis(18.3%), and recurrent abscesses(14,6%). Common long-term complications were dental problems(n = 51), osteoporosis(n = 22), growth retardation(n = 14), malignancy(n = 16)[myelodysplastic syndrome(n = 10), large granulocytic leukemia(n = 1), acute lymphoblastic leukemia(n = 1), Hodgkin lymphoma(n = 1), EBV-related lymphoma(n = 1), leiomyosarcoma(n = 1), and thyroid neoplasm(n = 1)]. We performed a genetic study in 86 patients, and 69(71%) got a genetic diagnosis. Common gene defects were HAX-1(n = 26), ELA-2 (ELANE)(n = 10), AP3B1(n = 4), and ADA-2(n = 4) gene defects. The IEI ratio(70.6%) was high. GCSF treatment(93.4%), immunoglobulin replacement therapy(18.7%), and HSCT(15.9%) were the treatment options. The mortality rate was 12.9%(n = 14). The most common long term complications were dental problems that is three times more common in patients with known genetic mutations. We prepared an algorithm for chronic neutropenia depending on the present cohort. An important rate of inborn errors of immunity, especially combined immunodeficiency(11.9%) was presented in addition to congenital phagocytic cell defects. Early diagnosis will allow us tailor the disease-specific treatment options sooner, preventing irreversible consequences.

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免疫学参考中心的大型队列和慢性中性粒细胞减少症的随访算法。
慢性中性粒细胞减少症的病因包括营养缺乏和先天性免疫错误(IEI),如严重的先天性中性粒细胞减少症。对儿科免疫科常见的慢性中性粒细胞减少症病因进行分类。我们收集了2002-2022年间儿科免疫科收治的109名慢性中性粒细胞减少症患者。我们记录了临床/实验室特征和遗传特征。男女比例为 63/46。58名患者的父母为近亲(57.4%)。26.6%(n = 29)的患者家族中至少有一人患有中性粒细胞减少症。发病时的常见症状为上呼吸道感染(31.1%)、口腔咽炎(23.6%)、皮肤感染(23.6%)、肺炎(20.8%)和复发性脓肿(12.3%)。随访期间常见的感染有尿路感染(56.8%)、肺炎(33%)、皮肤感染(25.6%)、肠胃炎(18.3%)和复发性脓肿(14.6%)。常见的长期并发症有牙齿问题(51 例)、骨质疏松症(22 例)、生长迟缓(14 例)、恶性肿瘤(16 例)[骨髓增生异常综合征(10 例)]、大粒细胞白血病(1 例)、急性淋巴细胞白血病(1 例)、霍奇金淋巴瘤(1 例)、EB 病毒相关淋巴瘤(1 例)、白肌肉瘤(1 例)和甲状腺肿瘤(1 例)]。我们对 86 例患者进行了基因研究,其中 69 例(71%)得到了基因诊断。常见的基因缺陷为HAX-1(26例)、ELA-2(ELANE)(10例)、AP3B1(4例)和ADA-2(4例)基因缺陷。IEI比率(70.6%)很高。治疗方案包括 GCSF 治疗(93.4%)、免疫球蛋白替代治疗(18.7%)和造血干细胞移植(15.9%)。死亡率为12.9%(14人)。最常见的长期并发症是牙科问题,而在已知基因突变的患者中,牙科问题的发病率要高出三倍。我们根据目前的队列制定了慢性中性粒细胞减少症的治疗方案。除了先天性吞噬细胞缺陷外,先天性免疫错误的比例也很高,尤其是联合免疫缺陷(11.9%)。早期诊断将使我们能够更快地调整针对特定疾病的治疗方案,防止出现不可逆转的后果。
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来源期刊
CiteScore
12.20
自引率
9.90%
发文量
218
审稿时长
2 months
期刊介绍: The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.
期刊最新文献
Similar Kinetics of Pulmonary SARS-CoV-2 Load in Intensive Care Unit Patients with COVID-19 Pneumonia with or Without Autoantibodies Neutralizing Type I Interferons. Expanding the Spectrum of Immune Abnormalities in VICI Syndrome. Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans. Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control. Correction to: Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
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