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Prenatal Diagnosis and Early Treatment of Immunodeficiencies in Man
Published in Gérard Chaouat, The Immunology of the Fetus, 2020
Catherine Royo, Jean-Louis Touraine
Beside significant improvement in the treatment of ID diseases, antenatal diagnosis of these conditions has been intensively developed. For a long time, antenatal diagnosis of ID was limited to diseases associated with an enzyme defect. Adenosine deaminase activity was measured on cultured amniotic fluid cells obtained by amniocentesis at 15 to 16 weeks of gestation.1 In X-linked forms of ID, determination of fetal sex by karyotyping amniotic cells permitted identification of male fetuses. Nevertheless, the diagnosis of ID cannot be performed in the 50% of male fetuses really affected. Recent developments of prenatal diagnosis methods (such as fetoscopy, fetal blood,2 and chorionic villi samplings3) and of laboratory techniques (such as fetal leukocyte phenotyping4 or study of granulocyte and monocyte functions5) provided means to apply prenatal diagnosis to other forms of ID: bare lymphocyte syndrome (BLS) combined ID with lack of HLA expression;6,7 severe combined ID (SCID) non-associated with a known enzymatic defect;8 and chronic granulomatous disease (CGD).5 The aim of this chapter is to provide an overview of prenatal diagnosis methods for ID diseases and to consider improved therapeutic possibilities offered to affected patients. For practical purposes, the IDs are sequentially reviewed, according to a physio-pathological classification.9
The Major Histocompatibility Complex
Published in Constantin A. Bona, Francisco A. Bonilla, Textbook of Immunology, 2019
Constantin A. Bona, Francisco A. Bonilla
Some MHC class I-deficient individuals appear normal, or only mildly immune-deficient. Defects in class II expression however, are associated invariably with severe viral, bacterial and fungal infections at an early age. Most individuals die in the first years of life. Bone marrow transplantation is currently the only effective way to cure this condition. Immune function has been reconstituted in fetuses diagnosed with bare lymphocyte syndrome following sampling of cord blood in utero. Cadaveric fetal liver cells and thymic epithelial cells were injected in the umbilical cord at 30 weeks gestation. There were no problems associated with rejection or GVH phenomena due to the immaturity of grafted cells and the recipient. At age three years one patient is well and has poor antibody production which is treated with regular infusions of gamma globulin. In utero transplantation may prove to be a promising method of correcting hemopoietic abnormalities.
High expression of RFX4 is associated with tumor progression and poor prognosis in patients with glioblastoma
Published in International Journal of Neuroscience, 2021
Hang Yeon Jeong, Hyun-Jin Kim, Cheol-Eun Kim, Seongsoo Lee, Moon-Chang Choi, Sung-Hak Kim
The regulatory factor X (RFX) family was first found in mammals as a transcriptional regulatory protein that binds to a conserved cis-regulatory element called the X-box motif [7], which is known to be a highly conserved motif present in the promoter region of various MHC class II genes [8]. The RFX family proteins have been reported to regulate genes involved in various processes such as cell cycle and DNA repair [9,10]. In addition, RFX family genes have also been reported to be involved in processes associated with cell differentiation such as the functional maturation of immune response cells [11] and the development of cilia on the polarized cell surface [12]. Due to these roles of RFX proteins during development, mutations in the RFX genes can lead to serious disease states such as Bare Lymphocyte Syndrome (OMIM #209920) and Mitchell-Riley Syndrome (OMIM #615710) [13].