Rabab El Hawary, Safa Meshaal, Sohilla Lotfy, Dalia Abd Elaziz, Alia S Eldash, Aya Erfan, Radwa Alkady, Rania Darwish, Mai Saad, Engy Chohayeb, Nermeen Galal, Aisha M Elmarsafy
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He also had dental enamel erosion, repeated attacks of diarrhea, and pneumonia. He had elevated serum IgE and normal B- and T-lymphocyte subset counts, but there was an arrest in the B-cell maturation. DOCK8 expression on the lymphocytes by flow cytometry was normal. Next-generation sequencing revealed a novel homozygous variant in the MALT1 gene (c.762dup in exon 5 of 17; p.Ile255TyrfsTer10); this variant is likely pathogenic, thus supporting the genetic diagnosis of immunodeficiency-12 (IMD12). Although the presence of eczema, recurrent sinopulmonary, and staphylococcal infections are suggestive of DOCK8 deficiency, they are also a finding in CARD11 and MALT1 deficiency. Thus, whenever DOCK 8 has been excluded, the molecular diagnosis is mandatory as this could lead to discovering more patients hence better understanding and reporting of the phenotype and natural history of the disease especially since there are very few documented cases. Early diagnosis will also enable the proper patient management by hematopoietic stem cell transplantation (HSCT) prior to the establishment of infections and pulmonary damage leading to a better outcome.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":" ","pages":"1147-1153"},"PeriodicalIF":3.3000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel MALT1 variant in an Egyptian patient presenting with exfoliative dermatitis: a case-based review.\",\"authors\":\"Rabab El Hawary, Safa Meshaal, Sohilla Lotfy, Dalia Abd Elaziz, Alia S Eldash, Aya Erfan, Radwa Alkady, Rania Darwish, Mai Saad, Engy Chohayeb, Nermeen Galal, Aisha M Elmarsafy\",\"doi\":\"10.1007/s12026-024-09517-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Inborn errors of the CARD11-BCL10-MALT1 (CBM) signalosome have recently been shown to underlie severe combined immunodeficiency (SCID) and combined immunodeficiency (CID) with variable immunological and clinical phenotypes, and patients usually present with recurrent bacterial, viral, and fungal infections, periodontal disease, enteropathy, dermatitis, and failure to thrive. 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引用次数: 0
摘要
最近的研究表明,CARD11-BCL10-MALT1(CBM)信号体的先天性错误是导致重症联合免疫缺陷症(SCID)和联合免疫缺陷症(CID)的原因,其免疫学和临床表型各不相同,患者通常表现为反复的细菌、病毒和真菌感染、牙周病、肠病、皮炎和发育不良。在本研究中,我们描述了一名埃及 MALT1 基因突变患者的临床和免疫学特征。该患者面部和四肢屈侧出现瘙痒性皮疹和湿疹。他还患有牙釉质侵蚀、反复腹泻和肺炎。他的血清 IgE 升高,B 淋巴细胞和 T 淋巴细胞亚群计数正常,但 B 细胞成熟停滞。流式细胞术显示淋巴细胞中的 DOCK8 表达正常。下一代测序发现,MALT1基因存在一个新的同源变异(c.762dup,位于17的第5外显子;p.Ile255TyrfsTer10);该变异很可能是致病性的,因此支持免疫缺陷-12(IMD12)的基因诊断。虽然湿疹、反复鼻窦肺部感染和葡萄球菌感染的出现提示了 DOCK8 缺乏症,但它们也是 CARD11 和 MALT1 缺乏症的发现。因此,只要排除了 DOCK 8,就必须进行分子诊断,因为这可能会发现更多的患者,从而更好地了解和报告该病的表型和自然史,尤其是因为有记录的病例很少。早期诊断还能在感染和肺损伤形成之前,通过造血干细胞移植(HSCT)对患者进行适当治疗,从而获得更好的预后。
A novel MALT1 variant in an Egyptian patient presenting with exfoliative dermatitis: a case-based review.
Inborn errors of the CARD11-BCL10-MALT1 (CBM) signalosome have recently been shown to underlie severe combined immunodeficiency (SCID) and combined immunodeficiency (CID) with variable immunological and clinical phenotypes, and patients usually present with recurrent bacterial, viral, and fungal infections, periodontal disease, enteropathy, dermatitis, and failure to thrive. In the present study, we describe the clinical and immunological characteristics of an Egyptian patient with a mutation in the MALT1 gene. The patient suffered from an itchy exfoliative skin rash and eczematous lesions over his face and flexural surface of the limbs. He also had dental enamel erosion, repeated attacks of diarrhea, and pneumonia. He had elevated serum IgE and normal B- and T-lymphocyte subset counts, but there was an arrest in the B-cell maturation. DOCK8 expression on the lymphocytes by flow cytometry was normal. Next-generation sequencing revealed a novel homozygous variant in the MALT1 gene (c.762dup in exon 5 of 17; p.Ile255TyrfsTer10); this variant is likely pathogenic, thus supporting the genetic diagnosis of immunodeficiency-12 (IMD12). Although the presence of eczema, recurrent sinopulmonary, and staphylococcal infections are suggestive of DOCK8 deficiency, they are also a finding in CARD11 and MALT1 deficiency. Thus, whenever DOCK 8 has been excluded, the molecular diagnosis is mandatory as this could lead to discovering more patients hence better understanding and reporting of the phenotype and natural history of the disease especially since there are very few documented cases. Early diagnosis will also enable the proper patient management by hematopoietic stem cell transplantation (HSCT) prior to the establishment of infections and pulmonary damage leading to a better outcome.
期刊介绍:
IMMUNOLOGIC RESEARCH represents a unique medium for the presentation, interpretation, and clarification of complex scientific data. Information is presented in the form of interpretive synthesis reviews, original research articles, symposia, editorials, and theoretical essays. The scope of coverage extends to cellular immunology, immunogenetics, molecular and structural immunology, immunoregulation and autoimmunity, immunopathology, tumor immunology, host defense and microbial immunity, including viral immunology, immunohematology, mucosal immunity, complement, transplantation immunology, clinical immunology, neuroimmunology, immunoendocrinology, immunotoxicology, translational immunology, and history of immunology.