Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children63610.24287/1726-1708-2022-21-3-126-135SCHOOL OF IMMUNOLOGY – EXPERT OPINIONШКОЛА ИММУНОЛОГА – МНЕНИЕ ЭКСПЕРТАClinical characteristics of patients with the SAMD9/SAMD9L gene defectsКлиническая характеристика пациентов с дефектами генов SAMD9/SAMD9Lhttps://orcid.org/0000-0002-9399-6534AvedovaA. Ya.АведоваА. Я.
Russian Federation

Asmik Ya. Avedova, a resident

1 Samory Mashela St., Moscow 117997, Russia

Аведова Асмик Яковлевна, врач-ординатор 

117997, Москва, ул. Саморы Машела, 1

asya.avedova95@mail.ruhttps://orcid.org/0000-0003-0471-2956MersiyanovaI. V.МерсияноваИ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-3974-5662PavlovaA. V.ПавловаА. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-0319-3699SultanovaE. R.СултановаЭ. Р.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-1258-8281PetrovaU. N.ПетроваУ. Н.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-2689-0569BalashovD. N.БалашовД. Н.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-0520-5630ShelikhovaL. N.ШелиховаЛ. Н.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-7634-2053RaykinaE. V.РайкинаЕ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-6148-7209PershinD. E.ПершинД. Е.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-2057-2036PshonkinA. V.ПшонкинА. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-4567-1871FedorovaD. V.ФедороваД. В.
Russian Federation

Moscow

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России151020222131261352607202229082022Copyright ©; 2022, «D. Rogachev NMRCPHOI»Copyright ©; 2022, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2022«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/636

Conditions associated with defects in the SAMD9/SAMD9L genes represent a relatively new group of diseases characterized by a diverse range of clinical manifestations: from multisystem disorders such as MIRAGE syndrome to isolated hematological manifestations. A previous history of infectious diseases in patients with SAMD9/SAMD9L gene defects before the onset of hematological manifestations is in most cases associated with the defects of the immune system. Gain- or change-of-function germline mutations in the SAMD9/SAMD9L genes are the most common predisposition factors for pediatric myelodysplastic syndrome (MDS) with monosomy 7. However, SAMD9/SAMD9L patients with cytogenetic rearrangements but without any signs or symptoms of MDS can have spontaneous remission due to various compensatory cellular mechanisms. The presence of primary immunodeficiency and a predisposition to MDS at an early age requires a more detailed approach to this group of patients and early determination of indications for allogeneic hematopoietic stem cell transplantation. The patients’ parents gave their consent to the use of their child’s data, including photographs, for research purposes and in publications.

Состояния, ассоциированные с дефектами в генах SAMD9 и SAMD9L, – это относительно новая группа нозологий, характеризующихся разнообразным спектром клинических симптомов: от мультисистемного поражения в рамках синдрома MIRAGE до изолированных гематологических проявлений. Наличие отягощенного инфекционного анамнеза у данной группы пациентов до дебюта гематологических проявлений в большинстве случаев обусловлено дефектами иммунной системы. Герминальные мутации в генах SAMD9/SAMD9L с приобретением/изменением функции являются одними из наиболее распространенных факторов предрасположенности к педиатрическому миелодиспластическому синдрому (МДС) с моносомией 7-й хромосомы. Однако при наличии цитогенетических перестроек без признаков МДС в рамках синдромов SAMD9/SAMD9L возможна спонтанная ремиссия за счет различных компенсаторных клеточных механизмов. Наличие первичного иммунодефицитного состояния, предрасположенность к развитию МДС в раннем возрасте требуют более детального подхода к данной группе пациентов и раннего определения показаний для проведения аллогенной трансплантации гемопоэтических стволовых клеток. Родители пациентов подписали согласие на использование информации, в том числе фотографий детей, в научных исследованиях и публикациях.

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