Работа посвящена редкому варианту первичного иммунодефицита из группы моногенных аутовоспалительных заболеваний с PLCg2-ассоциированным дефицитом антител и иммунной дисрегуляцией (APLAID). В статье представлен наш опыт ведения пациента 7 лет с этим синдромом, а также приведены ключевые аспекты патогенеза и клинической картины на основании анализа известных случаев данного заболевания. Отсутствие установленных критериев и методов лечения APLAID обусловлено редкостью встречаемости и относительной новизной описанной нозологии. Нами представлен опыт терапии с использованием ингибитора фактора некроза опухоли-a с последующей оценкой эффективности проводимого лечения и нежелательных явлений. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.
CTLA4 deficiency is a primary immunodeficiency state (PIDS) caused by monoallelic mutations in the gene of the same name, and belongs to the group of immunodeficiencies with immune dysregulation. This work analyzes the results of 11 patients with CTLA4 mutations observed at the Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology from October 2012 to January 2021. In 10 of 11 patients had some manifestations of immune dysregulation, the most frequent were cytopenias (10/11), lymphoproliferation (9/11) and lung damage caused by the type of interstitial lymphocytic lungs disease (9/11). Almost all patients had such abnormal immune parameters as hypogammaglobulinemia or dysgammaglobulinemia, lymphopenia. Currently, there is no standardized treatment for these patients, however, targeted therapy with biologically modified CTLA4 is a promising approach to the treatment of autoimmune complications in patients with CTLA4 deficiency. The only curative treatment option for patients with PIDS is hematopoietic stem cell transplantation, but in order to make conclusions about the effectiveness and safety of this treatment, a long period of observation and large groups of patients are required.
CTLA4 haploinsufficiency with autoimmune infiltration (CHAI – CTLA4 haploinsufficiency with autoimmune infiltration) is a rare primary immunodeficiency diseases (PIDDs) that belongs to the group of T-regopathy or PIDDs with immune dysregulation. Monoallelic mutations in the CTLA4 gene cause haploinsufficiency of the homonymous protein and lead to multiple autoimmune complications, such as lymphoproliferation, immune cytopenias, lymphocytic interstitial pneumonia (LIP), inflammatory diseases of the gut, CNS damage, etc., combined with increased susceptibility to infections. Algorithms for the treatment of patients with CHAI have not yet been developed, however, there are promising therapeutic options for targeted therapy with a biologically modified CTLA4 abatacept drug. Hematopoietic stem cell transplantation is indicated for patients with a severe course of the disease, however, in order to draw conclusions about the efficacy and safety of this method of treatment, long period observations and large groups of patients are required.
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