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1998 2
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Page 1
Recent advances in understanding the pathogenesis and management of reticular dysgenesis.
Hoenig M, Pannicke U, Gaspar HB, Schwarz K. Hoenig M, et al. Br J Haematol. 2018 Mar;180(5):644-653. doi: 10.1111/bjh.15045. Epub 2017 Dec 21. Br J Haematol. 2018. PMID: 29270983 Free article. Review.
Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. ...In this review, we will demonstrate important clinical differences bet …
Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immuno …
[Rheumatological manifestations in primary immunodeficiency diseases].
Szabó MZ. Szabó MZ. Orv Hetil. 2018 Jun;159(23):919-928. doi: 10.1556/650.2018.31084. Orv Hetil. 2018. PMID: 29860881 Review. Hungarian.
Larger bone manifestations occur in hyper-IgE syndrome and spondyloepiphyseal dysplasia. Short stature is the most common in reticular dysgenesis, in autoimmune polyendocrinopathy candidiasis ectodermal dysplasia and in DNA repair disorders. ...
Larger bone manifestations occur in hyper-IgE syndrome and spondyloepiphyseal dysplasia. Short stature is the most common in reticular …
Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.
Hsu AP. Hsu AP. Clin Exp Immunol. 2023 Apr 25;212(2):137-146. doi: 10.1093/cei/uxad001. Clin Exp Immunol. 2023. PMID: 36617178 Free PMC article. Review.
Likewise RAC2 patients present with vastly different phenotypes depending on the mutation-ranging from reticular dysgenesis or severe neutrophil dysfunction with neonatal presentation to later onset common variable immune deficiency. ...
Likewise RAC2 patients present with vastly different phenotypes depending on the mutation-ranging from reticular dysgenesis or …
Adenylate kinase and AMP signaling networks: metabolic monitoring, signal communication and body energy sensing.
Dzeja P, Terzic A. Dzeja P, et al. Int J Mol Sci. 2009 Apr 17;10(4):1729-1772. doi: 10.3390/ijms10041729. Int J Mol Sci. 2009. PMID: 19468337 Free PMC article. Review.
Recent studies indicate that derangements in adenylate kinase-mediated energetic signaling due to mutations in AK1, AK2 or AK7 isoforms are associated with hemolytic anemia, reticular dysgenesis and ciliary dyskinesia. Moreover, hormonal, food and antidiabetic drug …
Recent studies indicate that derangements in adenylate kinase-mediated energetic signaling due to mutations in AK1, AK2 or AK7 isoforms are …
Neutropenia associated with primary immunodeficiency syndromes.
Cham B, Bonilla MA, Winkelstein J. Cham B, et al. Semin Hematol. 2002 Apr;39(2):107-12. doi: 10.1053/shem.2002.31916. Semin Hematol. 2002. PMID: 11957193 Review.
This article will review those primary immunodeficiency syndromes in which neutropenia is a prominent finding, including X-linked agammaglobulinemia (XLA), hyper IgM syndrome, common variable immunodeficiency (CVID), IgA deficiency, cartilage-hair hypoplasia (CHH), and reticul …
This article will review those primary immunodeficiency syndromes in which neutropenia is a prominent finding, including X-linked agammaglob …
Recent advances in the pathogenesis and treatment of nonimmune neutropenias in the neonate.
Calhoun DA, Christensen RD. Calhoun DA, et al. Curr Opin Hematol. 1998 Jan;5(1):37-41. doi: 10.1097/00062752-199801000-00007. Curr Opin Hematol. 1998. PMID: 9515201 Review.
Recent advances have been made in the pathogenesis and treatment of several types of neonatal neutropenia, including reticular dysgenesis, Schwachman-Diamond syndrome, Kostmann syndrome, neutropenia in infants of hypertensive women, and "idiopathic neutropenia." ...
Recent advances have been made in the pathogenesis and treatment of several types of neonatal neutropenia, including reticular dys …
[Reticular dysgenesis].
Ohashi Y. Ohashi Y. Ryoikibetsu Shokogun Shirizu. 2000;(32):35-7. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11212742 Review. Japanese. No abstract available.
[Reticular dysgenesis].
Okawa H. Okawa H. Ryoikibetsu Shokogun Shirizu. 1998;(21 Pt 2):243-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9833481 Review. Japanese. No abstract available.