Faculty Opinions recommendation of The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome.

In recent years, increasing numbers of patients with primary immune deficiency (PID) are being recognized as also suffering from cardiovascular system (CVS) abnormalities. These CVS defects might be explained by infectious or autoimmune etiologies, as well as by the role of specific genes and the immune system in the development and function of CVS tissues. Here, we provide the first comprehensive review of the clinical, potentially pathogenic mechanisms, and the management of PID, as well as the associated immune and CVS defects. In addition to some well-known associations of PID with CVS abnormalities, such as DiGeorge syndrome and CHARGE anomaly, we describe the cardiac defects associated with Omenn syndrome, calcium channel deficiencies, DNA repair defects, common variable immunodeficiency, Roifman syndrome, various neutrophil/macrophage defects, FADD deficiency, and HOIL1 deficiency. Moreover, we detail the vascular abnormalities recognized in chronic mucocutaneous candidiasis, chronic granulomatous disease, Wiskott–Aldrich syndrome, Schimke immuno-osseus dysplasia, hyper-IgE syndrome, MonoMAC syndrome, and X-linked lymphoproliferative disease. In conclusion, the expanding spectrum of PID requires increased alertness to the possibility of CVS involvement as an important contributor to the diagnosis and management of these patients.

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Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice

Journal of Clinical Imaging Science ◽

10.4103/2156-7514.150445 ◽

2015 ◽

Vol 5 ◽

pp. 4

Author(s):

Rajoo Ramachandran ◽

Sellappan Rajamanickam Babu ◽

Subramanian Ilanchezhian ◽

Prabhu Radhan Radhakrishnan

Keyword(s):

Digeorge Syndrome ◽

Genetic Disorder ◽

Endocrine System ◽

Radiographic Evaluation ◽

Rare Entity ◽

Craniofacial Abnormalities ◽

Clinical Imaging ◽

Craniofacial Dysmorphism ◽

Chromosome 22Q11.2

DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity.

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DGCR14 InducesIl17aGene Expression through the RORγ/BAZ1B/RSKS2 Complex

Molecular and Cellular Biology ◽

10.1128/mcb.00926-14 ◽

2014 ◽

Vol 35 (2) ◽

pp. 344-355 ◽

Cited By ~ 3

Author(s):

Ichiro Takada

Keyword(s):

Cell Differentiation ◽

Mrna Expression ◽

Digeorge Syndrome ◽

Heart Defects ◽

Biochemical Purification ◽

S6 Kinase ◽

Ionization Time ◽

Flight Mass Spectrometry ◽

Ribosomal S6 Kinase

TheDgcr14/Es2gene is located in a chromosomal region the loss of which has been associated with DiGeorge syndrome, a cause of immunodeficiency, heart defects, and skeletal abnormalities. However, the role of DGCR14 protein remains to be elucidated. Here, I found that DGCR14 protein acts as a coactivator of RORγt in TH17 cells. Biochemical purification of the RORγ coregulator complex allowed me to identify the associated DGCR14 protein by matrix-assisted laser desorption ionization–time of flight mass spectrometry. Overexpression ofDgcr14mRNA enhanced RORγt-mediated transcriptional activity and facilitated TH17 cell differentiation. Furthermore, knockdown of Dgcr14 reducedIl17amRNA expression. I also found that DGCR14 associated with ribosomal S6 kinase 2 (RSK2, also called RpS6ka3) and BAZ1B, both of which were recruited to theIl17apromoter during TH17 cell differentiation. Knockdown ofBaz1borRpS6ka3also reducedIl17amRNA expression, andBaz1bknockdown increased transcriptional suppressive histone marks (histone H3K9me3) on theIl17apromoter. My findings showed the roles of DGCR14, RSK2, and BAZ1B in the transcriptional regulation ofIl17amRNA during TH17 cell differentiation.

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Role of DiGeorge syndrome critical region gene 9, a long noncoding RNA, in gastric cancer

OncoTargets and Therapy ◽

10.2147/ott.s162253 ◽

2018 ◽

Vol Volume 11 ◽

pp. 2259-2267 ◽

Cited By ~ 5

Author(s):

Chao Ni ◽

Ping Yang ◽

Junming Guo ◽

Meng Ye

Keyword(s):

Gastric Cancer ◽

Critical Region ◽

Long Noncoding Rna ◽

Noncoding Rna ◽

Digeorge Syndrome ◽

Region Gene

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The Thymus Gland

Neonatal Network The Journal of Neonatal Nursing ◽

10.1891/0730-0832.20.8.7 ◽

2001 ◽

Vol 20 (8) ◽

pp. 7-13 ◽

Cited By ~ 3

Author(s):

Debbie Fraser Askin ◽

Sandra Young

Keyword(s):

Immune System ◽

Digeorge Syndrome ◽

Modern Science ◽

Lymphoid Organ ◽

Thymus Gland ◽

Fetal Life

This article reviews the embryology, physiology, and pathophysiology of the thymus. The anatomy of this lymphoid organ, the significance of the presence or absence of the thymus radiographically, and the role of the thymus in immunity are also reviewed. Finally, the pathologic presentation of thymic hypoplasia (DiGeorge syndrome) is discussed. Despite advances in modern science, little was known about the thymus, one of the body’s key organs in the immune system, until 1961, when Dr. Jacques Miller performed thymectomies in mice. Then it became evident that the thymus played a key role in the body’s defense against infection. Since that time, researchers have continued to examine the role of the thymus from fetal life through adulthood.

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