SCID patients with ARTEMIS vs RAG deficiencies following HCT: Increased risk of late toxicity in ARTEMIS-deficient SCID

SchuetzC.; NevenB.; DvorakC.C.; LeroyS.; EgeM.J.; PannickeU.; SchwarzK.; SchulzA.S.; HoenigM.; Sparber-SauerM.; GatzS.A.; DenzerC.; BlancheS.; MoshousD.; PicardC.; HornB.N.; DeVillartayJ.-P.; CavazzanaM.; DebatinK.-M.; FriedrichW.; FischerA.; CowanM.J.

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SCID patients with ARTEMIS vs RAG deficiencies following HCT: Increased risk of late toxicity in ARTEMIS-deficient SCID

机译：SCID患有Artemis对HCT后的RAG缺陷的患者：在缺乏缺乏的SCID中增加了晚期毒性的风险

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A subgroup of severe combined immunodeficiencies (SCID) is characterized by lack of T and B cells and is caused by defects in genes required for T- and B-cell receptor gene rearrangement. Several of these genes are also involved in nonhomologous end joining of DNA double-strand break repair, the largest subgroup consisting of patients with T-B-NK +SCID due to DCLRE1C/ARTEMIS defects. We postulated that in patients with ARTEMIS deficiency, early and late complications following hematopoietic cell transplantation might be more prominent compared with patients with T -B-NK+SCID caused by recombination activating gene 1/2 (RAG1/2) deficiencies. We analyzed 69 patients with ARTEMIS and 76 patients with RAG1/2 deficiencies who received transplants from either HLA-identical donors without conditioning or from HLA-nonidentical donors without or with conditioning. There was no difference in survival or in the incidence or severity of acute graft-versus-host disease regardless of exposure to alkylating agents. Secondary malignancies were not observed. Immune reconstitution was comparable in both groups, however, ARTEMIS-deficient patients had a significantly higher occurrence of infections in long-term follow-up. There is a highly significant association between poor growth in ARTEMIS deficiency and use of alkylating agents. Furthermore, abnormalities in dental development and endocrine late effects were associated with alkylation therapy in ARTEMIS deficiency. (Blood. 2014;123(2):281-289).

机译：严重组合免疫缺乏（SCID）的亚组是缺乏T和B细胞的特征，并且是由T-和B细胞受体基因重排所需的基因缺陷引起的。这些基因中的几种也参与了DNA双链断裂修复的非汉语结束连接，该组成的最大亚组由由于DCLRE1C / Artemis缺陷导致的T-B-NK + SCID患者组成。我们假设在患有Artemis缺乏的患者中，与由重组激活基因1/2（RAG1 / 2）缺乏引起的T-B-NK + SCID患者相比，造血细胞移植后的早期和晚期并发症可能会更加突出。我们分析了69例阿尔忒弥斯患者和76名RAG1 / 2缺乏的患者，他们接受来自HLA相同的供体的移植器，无需调节或来自HLA-非识别的供体，没有或有调理。不论暴露于烷基化剂，存活率或急性移植物与宿主病的发病率或严重程度没有差异。没有观察到次要的恶性肿瘤。免疫重建在这两组中可相当，然而，缺乏患者的患者在长期随访中具有显着较高的感染。在阿尔忒弥斯缺乏和使用烷化剂的使用之间存在较差的差异之间存在非常重要的关联。此外，牙科发育和内分泌晚期效应的异常与阿尔忒弥斯缺乏的烷基化治疗有关。（血。2014; 123（2）：281-289）。

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《Blood: The Journal of the American Society of Hematology》 |2014年第2期|共9页
作者
SchuetzC.; NevenB.; DvorakC.C.; LeroyS.; EgeM.J.; PannickeU.; SchwarzK.; SchulzA.S.; HoenigM.; Sparber-SauerM.; GatzS.A.; DenzerC.; BlancheS.; MoshousD.; PicardC.; HornB.N.; DeVillartayJ.-P.; CavazzanaM.; DebatinK.-M.; FriedrichW.; FischerA.; CowanM.J.;
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Department of Pediatrics and Adolescent Medicine University Medical Center Ulm Ulm Germany;

Unité d'Immuno-Hématologie Assistance Publique-H?pitaux de Paris Paris France Université Paris;

Division of Allergy Immunology and Blood and Marrow Transplant University of California San;

Unité d'Epidémiologie des Maladies Emergentes Institut Pasteur Paris France;

University Children's Hospital Munich Munich Germany;

Institute for Transfusion Medicine Ulm University Ulm Germany;

Institute for Transfusion Medicine Ulm University Ulm Germany Institute for Clinical;

Department of Pediatrics and Adolescent Medicine University Medical Center Ulm Ulm Germany;

Department of Pediatrics and Adolescent Medicine University Medical Center Ulm Ulm Germany;

Department of Pediatrics and Adolescent Medicine University Medical Center Ulm Ulm Germany;

Department of Pediatrics and Adolescent Medicine University Medical Center Ulm Ulm Germany;

Department of Pediatric Endocrinology University Medical Center Ulm Ulm Germany;

Unité d'Immuno-Hématologie Assistance Publique-H?pitaux de Paris Paris France Université Paris;

Unité d'Immuno-Hématologie Assistance Publique-H?pitaux de Paris Paris France Université Paris;

Unité d'Immuno-Hématologie Assistance Publique-H?pitaux de Paris Paris France Université Paris;

Division of Allergy Immunology and Blood and Marrow Transplant University of California San;

Unité d'Immuno-Hématologie Assistance Publique-H?pitaux de Paris Paris France Développement;

Développement Normal et Pathologique du Système Immunitiaire Unité Institut National de la Sant;

Department of Pediatrics and Adolescent Medicine University Medical Center Ulm Ulm Germany;

Department of Pediatrics and Adolescent Medicine University Medical Center Ulm Ulm Germany;

Unité d'Immuno-Hématologie Assistance Publique-H?pitaux de Paris Paris France Université Paris;

Division of Allergy Immunology and Blood and Marrow Transplant University of California San;

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1. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID (vol 123, pg 281, 2014) [J] . Schuetz C., Neven B., Dvorak C. C. Blood: The Journal of the American Society of Hematology . 2018,第23期

机译：SCID患有Artemis与HCT缺陷缺陷的患者：缺乏缺乏症状的SCID中毒性的风险增加（Vol 123，PG 281,2014）
2. SCID patients with ARTEMIS vs RAG deficiencies following HCT: Increased risk of late toxicity in ARTEMIS-deficient SCID [J] . SchuetzC., NevenB., DvorakC.C., Blood: The Journal of the American Society of Hematology . 2014,第2期

机译：SCID患有Artemis对HCT后的RAG缺陷的患者：在缺乏缺乏的SCID中增加了晚期毒性的风险
3. SCID patients with ARTEMIS vs RAG deficiencies following HCT: Increased risk of late toxicity in ARTEMIS-deficient SCID [J] . SchuetzC., NevenB., DvorakC.C., Blood: The Journal of the American Society of Hematology . 2014,第2期

机译：HCT后具有ARTEMIS与RAG缺陷的SCID患者：ARTEMIS缺陷型SCID晚期毒性反应的风险增加
4. An unusual family case of ADA-SCID in Russian patients [C] . Khyber Shinwari, Mikhail Bolkov, Elena Vlasova, IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine . 2021

机译：俄罗斯患者ADA-SCID的一个不寻常的家庭情况
5. Risk of retinal detachment and vision loss in patients with cytomegalovirus retinitis and the acquired immune deficiency syndrome (Immune deficiency). [D] . Kempen, John Harold. 2001

机译：巨细胞病毒性视网膜炎和获得性免疫缺陷综合征（免疫缺陷）患者视网膜脱离和视力丧失的风险。
6. Schuetz C Neven B Dvorak CC et al. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood. 2014;123(2):281-289. [O] . -1

机译：Schuetz CNeven BDvorak CC等。 HCT后具有ARTEMIS与RAG缺陷的SCID患者：ARTEMIS缺陷的SCID晚期毒性的风险增加。血液。 2014; 123（2）：281-289。
7. Schuetz C, Neven B, Dvorak CC, et al. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood. 2014;123(2):281-289. [O] . 2018

机译：Schuetz C，Neven B，Dvorak Cc等。 SCID患者患有Artemis与RAG缺陷后HCT以下：在缺乏缺乏SCID中增加了晚期毒性的风险。血液。 2014; 123（2）：281-289。

SCID patients with ARTEMIS vs RAG deficiencies following HCT: Increased risk of late toxicity in ARTEMIS-deficient SCID

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