Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case.

IF 0.7 Q4 IMMUNOLOGY
Case Reports in Immunology Pub Date : 2025-03-19 eCollection Date: 2025-01-01 DOI:10.1155/crii/9988821
Ugur Musabak, Tuba Erdogan, Muserref Sule Akcay, Serdar Ceylaner
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引用次数: 0

Abstract

In recent years, due to the widespread use of advanced molecular diagnostic methods, it has become clear that individuals in particular born from consanguineous marriages may be carriers of different genetic diseases. For this reason, cases where diseases related to inborn errors of immunity (IEI) and metabolism errors are detected in the same patient are encountered more frequently. In patients affected by different genetic defects, the pathophysiology is more complex, and disease management is more difficult. In this article, we aimed to draw attention to this complex genetic carrier state in a male with primary immunodeficiency (PID). In the patient who presented with recurrent lower respiratory tract infections, bronchiectasis, asthma and nasal polyps, and antibody deficiencies as well as cellular immunodeficiency findings were detected in the immunological analyses. In the whole exome sequencing (WES) study, three different variants were detected, two in genes related to PIDs (DCLRE1C and TNFRSF13B) and one in the gene related to phenylalanine metabolism (phenylalanine hydroxylase (PAH)). In the light of the current findings, the patient was evaluated as having leaky severe combined immunodeficiency (SCID) with immune phenotype T-B-natural killer (NK)+ and hyperphenylalaninemia (HPA). This case showed us that metabolic diseases may accompany a delay in the diagnosis of SCID and patients should be evaluated with a multidisciplinary approach.

漏型SCID与高苯丙氨酸血症在成人病例中的共存
近年来,由于先进的分子诊断方法的广泛使用,人们已经清楚地认识到,特别是从近亲婚姻中出生的个体可能是不同遗传疾病的携带者。因此,在同一患者身上发现与先天性免疫缺陷(IEI)和代谢缺陷有关的疾病的情况更为频繁。不同基因缺陷影响的患者,其病理生理更为复杂,疾病管理更为困难。在本文中,我们旨在引起人们对男性原发性免疫缺陷(PID)中这种复杂的遗传载体状态的关注。在反复出现下呼吸道感染、支气管扩张、哮喘和鼻息肉的患者中,在免疫学分析中检测到抗体缺陷和细胞免疫缺陷。在全外显子组测序(WES)研究中,检测到三个不同的变异,两个与PIDs相关的基因(DCLRE1C和TNFRSF13B),一个与苯丙氨酸代谢相关的基因(苯丙氨酸羟化酶(PAH))。根据目前的研究结果,该患者被评估为具有t - b自然杀手(NK)+和高苯丙氨酸血症(HPA)免疫表型的漏性严重联合免疫缺陷(SCID)。这个病例告诉我们,代谢性疾病可能伴随SCID的诊断延迟,患者应该通过多学科方法进行评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.90
自引率
0.00%
发文量
14
审稿时长
15 weeks
期刊介绍: Case Reports in Immunology is a peer-reviewed, Open Access journal that publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.
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