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Immunology (primary Immunodeficiency Syndromes
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephan Strobel, Alison M. Jones
Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder that usually results in short-limb skeletal dysplasia, sometimes associated with T-cell and B-cell deficiencies. It is caused by mutations of the RMRP gene (RNA component of mitochondrial RNA processing endoribonuclease) on chromosome 9p12.
Cartilage and Craniofacial Growth
Published in D. Dixon Andrew, A.N. Hoyte David, Ronning Olli, Fundamentals of Craniofacial Growth, 2017
Olli Ronning, Heli Vinkka-Puhakka
The general consensus is that the morphogenesis and regulating capacity of growth cartilages must be genetically determined (Fell, 1956; Felts, 1959, 1961; Baume, 1961; Björk, 1972). The chondral structures would thus serve as mediators of the genetic code for morphogenesis. However, the complexity of the process is evident from the postulate that the partly cartilage-mediated length increase of the rat mandible is not directly genetically determined, whereas the responsiveness to growth stimulating factors would be under genetic control (Petrovic et al., 1979). Conditions involving subnormal cartilage growth are generally associated with altered morphogenesis of certain skeletal entities, e.g., the facial frame. Achondroplasia, having a specific craniofacial skeleton (Figure 14.17), is the most common form of the hereditary chondrodystrophies (Rimoin, 1975); its gene was recently localized, isolated, and characterized (Shiang et al., 1994). The involvement of cartilage in chondrodystrophies can be inexplicably selective. For instance, in cartilage-hair hypoplasia, endemic in the Amish and Finnish populations, the affected individuals reach an adult height of 116 to 147 cm as a sequel to the involvement of cartilaginous growth sites of tubular bones (McKusick et al., 1965; Perheentupa, 1972), while the craniofacial frame seems virtually normal (Ronning et al., 1978; Figure 14.18). The gene for cartilage-hair hypoplasia has also been localized and the data applied to prenatal diagnosis (Sulisalo, 1994).
Accident and Emergency
Published in Nagi Giumma Barakat, Get Through, 2006
This is a potentially lethal congenital dwarfism, usually inherited in an auto-somal recessive manner and very rare. It is characterized by typical skeletal dysplasias, such as a narrow thorax and micromelia, with respiratory and renal manifestations. The respiratory manifestations vary widely from respiratory failure and infantile death to a latent phenotype without respiratory symptoms. Other conditions to be included in the differential diagnosis are achondrogenesis and cartilage–hair hypoplasia.
How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist
Published in Pediatric Hematology and Oncology, 2023
Jutte van der Werff ten Bosch, Eva Hlaváčková, Charlotte Derpoorter, Ute Fischer, Francesco Saettini, Sujal Ghosh, Roula Farah, Delfien Bogaert, Rabea Wagener, Jan Loeffen, Chris M Bacon, Simon Bomken
Severe combined immunodeficiency (SCID), included within groups I and II and characterized by absent or severely diminished T cells, B cells and/or NK cells, is not commonly associated with malignancy as the disease is fatal without early HSCT. In contrast, patients with combined immunodeficiencies (CID), such as CD40L deficiency or cartilage hair hypoplasia, have a less severe immunological phenotype than SCID and have a substantially increased risk of developing malignancy.23,24 DNA repair disorders (ataxia telangiectasia (AT)) and Nijmegen breakage syndrome carry the greatest risk of malignancy with a cumulative incidence of malignancy of 22.6% by the early 20 s in patients with AT and a crude incidence of 40% by the age of 20 years in patients with NBS.16,25–28
Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Published in Expert Opinion on Orphan Drugs, 2018
Whilst the relationship between Omenn syndrome and missense RAG mutations was clear, there were still some patients for whom a genetic diagnosis was unresolved. One report described five infants with Omenn syndrome, from four unrelated families, only two of whom had mutations in RAG1 [55]. Three other patients with similar clinical phenotypes had RAG gene polymorphisms, predicted not to affect endonuclease function. This suggested that mutations in other genes may mimic the Omenn syndrome clinical phenotype. A further report investigated seven cases of Omenn syndrome with appropriate clinic-immunophenotype in whom no defect in RAG genes had been found. All patients demonstrated absent TCRVB families; six had predominant TCRVB families, six had oligoclonal TCR gene rearrangements including TCRGD rearrangements [56]. The clinical phenotype has now been described in other VDJ recombination defects, including patients with mutations in DCLRE1C leading to Artemis deficiency [57], and in LIG4, which codes for DNA ligase 4 [58]. To date, patients with Omenn syndrome have now been described in most genetic forms of SCID including IL2Rγ deficiency, IL7Rα deficiency, adenosine deaminase deficiency, AK2 deficiency, haploinsufficiency of 22q11 causing DiGeorge syndrome, haploinsufficiency of CHD7 causing CHARGE syndrome, and defects in RMRP associated with cartilage hair hypoplasia [59–67]. However, the most commonly identified genetic defects are in the RAG1 and RAG2 genes.
Ribosomopathies and cancer: pharmacological implications
Published in Expert Review of Clinical Pharmacology, 2022
Gazmend Temaj, Sarmistha Saha, Shpend Dragusha, Valon Ejupi, Brigitta Buttari, Elisabetta Profumo, Lule Beqa, Luciano Saso
11) Cartilage-hair hypoplasia (CHH) is a disorder of bone growth characterized by short stature with other skeletal abnormalities, sparse hair, and abnormal immune system function. People affected by CHH have short limbs and long bones in their arms and legs, respectively. Mutations in RMRP are known to cause CHH. Unlike many other genes, the RMRP gene does not contain instructions for synthesizing a specific protein. RMRP participates in non-coding RNA synthesis. Subsequently, this RNA is involved in different processes and forms an enzyme complex called mitochondrial RNA-processing endonuclease (RNase MRP). RNase MRP is involved in RNA processing, which is required to assemble building blocks into functional proteins [43,282–285].