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Response to steroid therapy in autism secondary to autoimmune lymphoproliferative syndrome

JOURNAL OF PEDIATRICS 2000年第5期136卷 682-687页

作者： Shenoy, S Arnold, S Chatila, T Washington Univ Sch Med Div Pediat Hematol Oncol Dept Pediat St Louis MO 63110 USA Washington Univ Sch Med Div Neurol Dept Pediat St Louis MO 63110 USA Washington Univ Sch Med Div Hematol Immunol Dept Pediat St Louis MO 63110 USA St Louis Childrens Hosp St Louis MO 63178 USA

We report a child who developed autoimmune lymphoproliferative syndrome (ALPS) secondary to a heterozygous dominant negative mutation in the death domain of the Fas receptor. Previously developmentally normal, he had symptoms of autism with rapid regression in developmental milestones coincident with the onset of lymphoproliferation and autoimmune hemolytic anemia. Low-dose steroid therapy induced early and complete remission in the ALPS phenotype. There was subjective improvement, followed by objective improvement in speech and developmental milestones. We propose that autism may be part of the autoimmune disease spectrum of ALPS in this child, and this case represents a novel manifestation and target organ involvement in this disease.

关键词：抗原 CD95/遗传学细胞凋亡孤独性障碍/药物疗法孤独性障碍/病因学自身免疫疾病/并发症自身免疫疾病/药物疗法自身免疫疾病/遗传学 DNA突变分析糖皮质激素类/治疗应用淋巴组织增殖性疾病/并发症淋巴组织增殖性疾病/药物疗法淋巴组织增殖性疾病/遗传学突变泼尼松/治疗应用儿童学龄前人类男(雄)性

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Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II

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CELL 1999年第1期98卷 47-58页

作者： Wang, J Zheng, LX Lobito, A Chan, FKM Dale, J Sneller, M Yao, X Puck, JM Straus, SE Lenardo, MJ NIAID Immunol Lab NIH Bethesda MD 20892 USA NIAID Clin Invest Lab NIH Bethesda MD 20892 USA NIAID Immunoregulat Lab NIH Bethesda MD 20892 USA Natl Human Genome Res Inst Genet & Mol Biol Branch NIH Bethesda MD 20892 USA NCI Pathol Lab NIH Bethesda MD 20892 USA

Caspases are cysteine proteases that mediate programmed cell death in phylogenetically diverse multicellular organisms. We report here two kindreds with autoimmune lymphoproliferative syndrome (ALPS) type II, characterized by abnormal lymphocyte and dendritic cell homeostasis and immune regulatory defects, that harbor independent missense mutations in Caspase 10. These encode amino acid substitutions that decrease caspase activity and interfere with death receptor-induced apoptosis, particularly that stimulated by Pas ligand and TRAIL. These results provide evidence that inherited nonlethal caspase abnormalities cause pleiotropic apoptosis defects underlying autoimmunity in ALPS type II.

关键词：衔接蛋白质类信号转导氨基酸取代抗原 CD95/生理学细胞凋亡凋亡调节蛋白质类自身免疫疾病/酶学自身免疫疾病/遗传学自身免疫疾病/免疫学乳腺肿瘤载体蛋白质类/生理学半胱氨酸天冬氨酸蛋白酶10 半胱氨酸天冬氨酸蛋白酶/遗传学细胞培养的 DNA引物树突细胞/病理学树突细胞/生理学 Fas配体蛋白质 Fas相关死亡结构域蛋白质 HeLa细胞内环境稳定淋巴细胞/病理学淋巴细胞/生理学淋巴组织增殖性疾病/酶学淋巴组织增殖性疾病/遗传学淋巴组织增殖性疾病/免疫学膜糖蛋白类/生理学突变误义重组蛋白质类/代谢逆转录聚合酶链反应 TNF相关凋亡诱导配体转染肿瘤坏死因子α/生理学儿童女(雌)性人类

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Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 1999年第8期96卷 4552-4557页

作者： Martin, DA Zheng, LX Siegel, RM Huang, BH Fisher, GH Wang, J Jackson, CE Puck, JM Dale, J Straus, SE Peter, ME Krammer, PH Fesik, S Lenardo, MJ NIAID Immunol Lab NIH Bethesda MD 20892 USA NIAID Clin Invest Lab NIH Bethesda MD 20892 USA Natl Human Genome Res Inst Genet & Mol Biol Branch NIH Bethesda MD 20892 USA Howard Hughes Med Inst Natl Inst Hlth Res Scholars Program D-69120 Heidelberg Germany German Canc Res Ctr D-69120 Heidelberg Germany Abbott Labs Abbott Pk IL 60064 USA

Heterozygous mutations in the CD95 (APO-1/Fas) receptor occur in most individuals with autoimmune lymphoproliferative syndrome (ALPS) and dominantly interfere with apoptosis by an unknown mechanism. We show that local or global alterations in the structure of the cytoplasmic death domain from nine independent ALPS CD95 death-domain mutations result in a: failure to bind the FADD/MORT1 signaling protein. Despite heterozygosity for the abnormal allele, lymphocytes from ALPS patients showed markedly decreased FADD association and a loss of caspase recruitment and activation after CD95 crosslinking. These data suggest that intracytoplasmic CD95 mutations in ALPS impair apoptosis chiefly by disrupting death-domain interactions with the signaling protein FADD/MORT1.

关键词：衔接蛋白质类信号转导氨基酸取代细胞凋亡自身免疫疾病/遗传学自身免疫疾病/免疫学结合部位载体蛋白质类/代谢密码子终止 Fas相关死亡结构域蛋白质淋巴组织增殖性疾病/遗传学淋巴组织增殖性疾病/免疫学模型分子点突变蛋白质结构二级序列缺失信号传导综合征人类

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Cytogenetic abnormalities in chronic B-Cell lymphoproliferative disorders in Chinese patients

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CANCER GENETICS AND CYTOGENETICS 1999年第1期111卷 55-60页

作者： Wong, KF Chan, JKC Queen Elizabeth Hosp Dept Pathol 30 Gascoigne Rd Hong Kong Peoples R China

We analyzed the cytogenetic findings of 59 Chinese patients with chronic B-cell lymphoproliferative disorders. More than half of the patients (n = 36, 61%) had chronic lymphocytic leukemia. Cytogenetic abnormalities were demonstrated in 44.1% (26/59) of the patients. Trisomy 12 was the most frequent abnormality in chronic lymphocytic leukemia and was found in 27.8% (10/36) of the patients, indicating that the incidence of trisomy 12 in chronic lymphocytic leukemia in Chinese patients might not be low compared with the West as previously suggested. Structural abnormalities involving chromosomes 13 at band q14 were the next most common abnormalities in patients with chronic lymphocytic leukemia. Among the 11 patients with mantle cell lymphoma in leukemic phase, t(11;14) was seen in only 2 patients (18.2%). Several unusual cytogenetic abnormalities also were found. (C) Elsevier Science Inc., 1999. All rights reserved.

关键词：亚洲大陆世系人群 B淋巴细胞/病理学染色体畸变染色体障碍核型分析淋巴组织增殖性疾病/遗传学中期/遗传学易位遗传成年人老年人老年人 80以上女(雌)性人类男(雄)性中年人

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Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)

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HUMAN MOLECULAR GENETICS 1999年第13期8卷 2407-2413页

作者： Brandau, O Schuster, V Weiss, M Hellebrand, H Fink, FM Kreczy, A Friedrich, W Strahm, B Niemeyer, C Belohradsky, BH Meindl, A LMU Dept Med Genet D-80336 Munich Germany Univ Wurzburg Dept Pediat D-97080 Wurzburg Germany Univ Munich Dr Von Haunerschen Kinderspital Dept Pediat D-80336 Munich Germany Univ Innsbruck Dept Pathol A-6020 Innsbruck Austria Univ Innsbruck Dept Pediat A-6020 Innsbruck Austria Univ Ulm Dept Pediat D-89075 Ulm Germany Univ Freiburg Dept Pediat Hematol & Oncol D-79106 Freiburg Germany

X-linked lymphoproliferative disease (XLP) is a primary immunodeficiency, which most often manifests itself after Epstein-Barr virus (EBV) infection. The main clinical phenotypes include fulminant or fatal infectious mononucleosis, dysgammaglobulinaemia and malignant lymphoma. We have recently cloned the SH2D1A gene, which has been shown to be mutated in similar to 70% of XLP patients. Now we report five novel SH2D1A mutations in patients from five unrelated XLP families. No mutations were found in another three XLP families. In three boys with early onset non-Hodgkin lymphoma (NHL) from two unrelated families a deletion of SH2D1A exon 1 and a splice site mutation were found, respectively. These patients did not show any laboratory or clinical signs of a previous EBV infection. A fourth EBV-uninfected and unrelated boy with a stop mutation in the SH2D1A gene shows only signs of dysgammaglobulinaemia. Development of dysgammaglobulinaemia and lymphoma without evidence of prior EBV infection in four of our patients suggests that EBV is unrelated to these phenotypes, in contrast to fulminant or fatal infectious mononucleosis. The role of SH2D1A as a putative tumour suppressor gene remains to be investigated.

关键词：载体蛋白质类/遗传学 DNA突变分析异常丙种球蛋白血症/并发症爱泼斯坦巴尔病毒感染/并发症外显子基因缺失单元型传染性单核细胞增多症/并发症细胞内信号肽和蛋白质类淋巴瘤非霍奇金/并发症淋巴瘤非霍奇金/遗传学淋巴组织增殖性疾病/并发症淋巴组织增殖性疾病/遗传学分子序列数据系谱点突变 RNA剪接人类男(雄)性

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SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients

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HUMAN GENETICS 1999年第5期105卷 501-505页

作者： Yin, L Ferrand, V Lavoué, MF Hayoz, D Philippe, N Souillet, G Seri, M Giacchino, R Castagnola, E Hodgson, S Sylla, BS Romeo, G Int Agcy Res Canc F-69372 Lyon 08 France CHU Vaudois Div Hypertens & Med Vasc CH-1011 Lausanne Switzerland Hop Debrousse Serv Hematol F-69322 Lyon 01 France Ist Giannina Gaslini Mol Genet Lab I-16148 Genoa Quarto Italy Ospitale G Gaslini Div Malattie Infett I-16148 Genoa Quarto Italy Guys Hosp Div Med & Mol Genet London SE1 9RT England

X-linked lymphoproliferative disease (XLP) is a rare inherited immunodeficiency to Epstein-Barr virus (EBV). The gene responsible for XLP has recently been identified as the four-exon SH2D1A gene encoding a 128-amino-acid protein that contains an SH2-domain. Functional studies indicate the SH2D1A protein acts as a regulator of at least two signal transduction pathways initiated by the cell surface molecules SLAM and 2B4, respectively, and possibly related to the host immune response to EBV infection. We have carried out a systematic mutation study of the SH2D1A gene in our series of 19 typical and 8 atypical XLP patients by polymerase chain reaction (PCR), reverse transcription/PCR, and sequencing, and have reconstructed the haplotypes of the patients. Four out of the 13 mutations detected are previously unreported. The identification of SH2D1A mutations in carriers from all three XLP families screened and the detection of mutations in two out of eight atypical patients indicates the usefulness of a DNA-based diagnosis for XLP disease.

关键词：载体蛋白质类/遗传学 DNA突变分析双核苷酸重复外显子基因连锁单倍型细胞内信号肽和蛋白质类淋巴组织增殖性疾病/诊断淋巴组织增殖性疾病/病因学淋巴组织增殖性疾病/遗传学突变系谱 RNA 信使/遗传学 RNA 信使/代谢逆转录聚合酶链反应信号传导/遗传学 X染色体/遗传学 src同源域/遗传学女(雌)性人类男(雄)性

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Immune-deficient bronchiectasis associated with X-linked lymphoproliferative disease

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ANNALS OF THORACIC SURGERY 1999年第2期68卷 578-580页

作者： Mehta, VK Massad, MG Tripathi, SP Koshy, M Geha, AS Univ Illinois Div Cardiothorac Surg Chicago IL 60612 USA

Bronchiectasis may occur with various congenital and acquired immunodeficiency diseases. The association of bronchiectasis and the X-linked lymphoproliferative disease (XLP), also known as Duncan's disease is unknown. We describe the case of a 39-year-old man with XLP, the oldest surviving, who developed chronic bronchiectasis with hemoptysis and required a pneumonectomy to control his symptoms. (C) 1999 by The Society of Thoracic Surgeons.

关键词：支气管扩张症/遗传学支气管扩张症/免疫学支气管扩张症/外科学咯血/遗传学咯血/免疫学咯血/外科学疱疹病毒4型人/免疫学淋巴组织增殖性疾病/遗传学淋巴组织增殖性疾病/免疫学淋巴组织增殖性疾病/外科学肺切除术体层摄影术 X线计算机成年人人类男(雄)性

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