Hypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.

IF 1.1 4区 医学 Q4 ALLERGY Pediatric Allergy Immunology and Pulmonology Pub Date : 2024-11-28 DOI:10.1089/ped.2024.0071
Demet Tekcan, Ilknur Kulhas Celik, Meltem Comert, Hasibe Artac
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Abstract

Introduction: Poikiloderma with neutropenia (PN) is a rare autosomal recessive hereditary disease caused by biallelic mutations of the USB1 gene. It is characterized by poikiloderma, chronic noncyclic neutropenia, and recurrent sinopulmonary infections with bronchiectasis. Here we report a case with homozygous c.531delA mutation in USB1 gene. Case: An 15-month-old boy was admitted to our clinic with skin hyperpigmentation, growth retardation, and recurrent lower respiratory tract infections. The medical history revealed that he was hospitalized 6 times due to pneumonia since the age of 3 months. His physical examination showed facial dysmorphism with triangular face, depressed nasal bridge, and frontal bossing. He also had poikiloderma in the whole body. Skin biopsy was performed and showed only hyperkeratosis. His weight and height were below the 3 percentile. He is the first child of his consangenius parents. In the laboratuary findings; he has mild neutropenia (1,100/mm3), hypogammaglobulinemia (serum IgG: 351 mg/dL, IgA: 17 mg/dL, IgM: 20 mg/dL) and, peripheral lymphocyte subset analysis was normal. Neutropenia was also observed in previous examinations (980-560-840/mm3). Immunoglobulin replacement therapy and antibiotic prophylaxis were started. Exome sequence analysis showed the presence of known homozygous variant (c.351delA) in USB1 gene. Conclusion: Poikiloderma with neutropenia mainly affects the myeloid lineage. Unlike other patients in the literature, we observed hypogammaglobulinemia in addition to neutropenia in our patient. This case illustrated that it is important to monitor serum immunoglobulin levels in symptomatic patients with recurrent infections.

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一名患有中性粒细胞减少症的克莱里库齐奥型波基底皮病患儿的低丙种球蛋白血症
简介中性粒细胞减少症(PN)是一种罕见的常染色体隐性遗传病,由 USB1 基因的双倍突变引起。该病的特征是嗜中性粒细胞减少症、慢性非周期性嗜中性粒细胞减少症、反复鼻窦肺部感染和支气管扩张。本文报告了一例 USB1 基因同源 c.531delA 突变的病例。病例一名 15 个月大的男童因皮肤色素沉着、发育迟缓和反复下呼吸道感染而入院。病史显示,他从 3 个月大开始就因肺炎住院 6 次。体格检查显示,他的面部畸形,脸呈三角形,鼻梁凹陷,额部隆起。他的全身还长有皮肤癣。对他进行了皮肤活检,结果显示只是角化过度。他的体重和身高均低于 3%。他是父母的第一个孩子。实验室检查结果显示,他患有轻度中性粒细胞减少症(1 100/mm3)、低丙种球蛋白血症(血清IgG:351毫克/分升,IgA:17毫克/分升,IgM:20毫克/分升),外周淋巴细胞亚群分析正常。在之前的检查中也发现了中性粒细胞减少症(980-560-840/mm3)。患者开始接受免疫球蛋白替代治疗和抗生素预防治疗。外显子组序列分析显示,USB1基因存在已知的同源变异(c.351delA)。结论Poikiloderma 中性粒细胞减少症主要影响髓系。与文献中的其他患者不同,我们在本例患者中除了中性粒细胞减少症外,还观察到了低丙种球蛋白血症。该病例说明,对于有症状且反复感染的患者,监测血清免疫球蛋白水平非常重要。
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来源期刊
CiteScore
2.00
自引率
0.00%
发文量
23
审稿时长
>12 weeks
期刊介绍: Pediatric Allergy, Immunology, and Pulmonology is a peer-reviewed journal designed to promote understanding and advance the treatment of respiratory, allergic, and immunologic diseases in children. The Journal delivers original translational, clinical, and epidemiologic research on the most common chronic illnesses of children—asthma and allergies—as well as many less common and rare diseases. It emphasizes the developmental implications of the morphological, physiological, pharmacological, and sociological components of these problems, as well as the impact of disease processes on families. Pediatric Allergy, Immunology, and Pulmonology coverage includes: -Functional and genetic immune deficiencies- Interstitial lung diseases- Both common and rare respiratory, allergic, and immunologic diseases- Patient care- Patient education research- Public health policy- International health studies
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Hypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia. Systemic Immune Inflammation Index, Systemic Inflammation Response Index, Aggregate Index of Systemic Inflammation, and Follistatin-Like Protein-1 Levels in Children Diagnosed with Pneumonia. Considerations for an Academic Pediatric Asthma Specialist in the 3rd Decade of the 21st Century. Iron Deficiency in Preschool Children with Chronic Rhinitis. Incorporating Aeroallergen Exposure Metrics into Clinical Asthma Care: A Pilot Study Using A Mixed-Methods Survey to Assess Aeroallergen Knowledge, Perceived Asthma Control, and Mitigation Strategies in Households of Children with Asthma.
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