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SRP72-Associated Bone Marrow Failure Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Among inherited BMFS, amegakaryocytic thrombocytopenia, Fanconi anemia, dyskeratosis congenita, Shwachman−Diamond syndrome, congenital amegakaryocytic thrombocytopenia, Blackfan−Diamond anemia, reticular dysgenesis, Pearson syndrome, severe congenital neutropenia, and thrombocytopenia absent radii are relatively common and well known. However, there are a few BMFS that have caught our attention only in recent years after identification of the culprit genes (e.g., SRP72 on chromosome 4q12, ERCC6L2 on chromosome 9q22.32, and DNAJC21 on chromosome 5p13.2) [1–4].
Primary Immunodeficiencies
Published in Gérard Chaouat, The Immunology of the Fetus, 2020
Alain Fischer, Durandy Anne, Claude Griscelli
Faulty differentiation of hematopoietic stem cells can lead to severe combined immunodeficiency (SCID). Depending on the level of maturation block, the disease may involve T- and B-lymphocytes and the myeloid lineage (reticular dysgenesis), T- and B-lymphocytes (alymphocytosis), or T-lymphocytes (X-linked SCID).1,2 The basic defects underlying these diseases are not presently known. Their intrinsic origin is proven by the ability of allogeneic bone marrow transplantation (BMT) to cure these diseases. Clinical consequences of the absence of T- and B-cell functions are disastrous. Opportunistic, as well as pyogenic, infections occur within the first 6 months leading to death in the absence of BMT. In addition, live vaccines such as BCG may lead to a lethal overwhelming mycobacterium infection. Finally, a maternofetal blood transfusion can provoke a graft vs. host disease (GvHd) due to maternal T-cells because of the lack of allogeneic response.3 Transfusion of nonirradiated blood also provokes a GvHD, generally lethal within 2 to 3 weeks.
Unexplained Fever In Hematologic Disorders Section 1. Benign Hematologic Disorders
Published in Benedict Isaac, Serge Kernbaum, Michael Burke, Unexplained Fever, 2019
Reticular dysgenesis with congenital aleukocytosis is characterized by severe agranulocytosis and lymphopenia from birth, together with hypogammaglobulinemia. Thymic aplasia or thymoma may be associated with this disorder.
Primary Immunodeficiency and Thrombocytopenia
Published in International Reviews of Immunology, 2022
Maryam Mohtashami, Azadehsadat Razavi, Hassan Abolhassani, Asghar Aghamohammadi, Reza Yazdani
Moreover, a mutation in the adenylate kinase 2 (AK2) gene causes reticular dysgenesis (RD) disease. This disorder is characterized by a significant decrease in the number and function of T- cells. AK2 deficiency leads to an impaired mitochondrial energy metabolism and lymphocyte differentiation and its maturation, but without effect on megakaryocytic maturation [67, 68]. Nonetheless, thrombocytopenia is known as one of the hematological abnormalities in about 45% of patients [32]. However, the role of AK in the platelet mitochondria is still unclear.