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1991 2
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1998 4
1999 1
2000 2
2001 1
2002 5
2003 5
2004 6
2006 4
2007 4
2008 5
2009 4
2010 6
2011 3
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2013 4
2014 5
2015 3
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The following term was not found in PubMed: faciooculoskeletal
Page 1
Primary and secondary defects of the thymus.
Dinges SS, Amini K, Notarangelo LD, Delmonte OM. Dinges SS, et al. Immunol Rev. 2024 Mar;322(1):178-211. doi: 10.1111/imr.13306. Epub 2024 Jan 16. Immunol Rev. 2024. PMID: 38228406 Review.
Severe congenital disorders of thymic development (athymia) can be fatal if left untreated due to infections, and thymic tissue implantation is the only cure. While newborn screening for severe combined immune deficiency has allowed improved detection at birth of co …
Severe congenital disorders of thymic development (athymia) can be fatal if left untreated due to infections, and thymic tissue implantation …
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.
Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY. Collins C, et al. J Clin Immunol. 2021 Jul;41(5):881-895. doi: 10.1007/s10875-021-01059-7. Epub 2021 May 13. J Clin Immunol. 2021. PMID: 33987750 Free PMC article. Review.
It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth and development, Genitourinary anomalies, and Ear anomalies …
It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma …
Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
Vakkilainen S, Taskinen M, Mäkitie O. Vakkilainen S, et al. Scand J Immunol. 2020 Oct;92(4):e12913. doi: 10.1111/sji.12913. Epub 2020 Jun 22. Scand J Immunol. 2020. PMID: 32506568 Free article. Review.
Cartilage-hair hypoplasia (CHH) is an autosomal recessive syndromic immunodeficiency with skeletal dysplasia, short stature, hypotrichosis, variable degree of immune dysfunction and increased incidence of anaemia, Hirschsprung disease and malignancy. ...Several risk factor …
Cartilage-hair hypoplasia (CHH) is an autosomal recessive syndromic immunodeficiency with skeletal dysplasia, short stature, hypotric …
Severe combined immunodeficiency: recent developments and guidance on clinical management.
Rivers L, Gaspar HB. Rivers L, et al. Arch Dis Child. 2015 Jul;100(7):667-72. doi: 10.1136/archdischild-2014-306425. Epub 2015 Jan 6. Arch Dis Child. 2015. PMID: 25564533 Review.
Severe combined immunodeficiency (SCID) is a rare but important condition. Affected infants are born with profound abnormalities of immune cell function that lead to severe and recurrent infection that are almost always fatal in the first year of life without …
Severe combined immunodeficiency (SCID) is a rare but important condition. Affected infants are born with profound abnormal …
Other Phenotypes and Treatment of Chronic Rhinosinusitis.
Naclerio RM, Baroody FM. Naclerio RM, et al. J Allergy Clin Immunol Pract. 2016 Jul-Aug;4(4):613-20. doi: 10.1016/j.jaip.2016.03.016. J Allergy Clin Immunol Pract. 2016. PMID: 27393776 Review.
For this article, we define CRS as symptoms lasting more than 3 months combined with an imaging study showing inflammation in the sinuses. This article comments on some factors that are believed to influence the expression of CRS. These factors include anatomic abnormal …
For this article, we define CRS as symptoms lasting more than 3 months combined with an imaging study showing inflammation in the sin …
Antiretroviral drug-related toxicities - clinical spectrum, prevention, and management.
Fernandez-Montero JV, Eugenia E, Barreiro P, Labarga P, Soriano V. Fernandez-Montero JV, et al. Expert Opin Drug Saf. 2013 Sep;12(5):697-707. doi: 10.1517/14740338.2013.806480. Epub 2013 Jun 4. Expert Opin Drug Saf. 2013. PMID: 23730950 Review.
Due to the efficacious nature of combination antiretroviral therapy in most drug-adherent patients, the concerns on the safety profile of these lifelong medicines have attracted great attention. ...EXPERT OPINION: A good knowledge of the toxicity profile of antiretr …
Due to the efficacious nature of combination antiretroviral therapy in most drug-adherent patients, the concerns on the safety …
Clinical management of dyslipidaemia associated with combination antiretroviral therapy in HIV-infected patients.
Calza L, Colangeli V, Manfredi R, Bon I, Re MC, Viale P. Calza L, et al. J Antimicrob Chemother. 2016 Jun;71(6):1451-65. doi: 10.1093/jac/dkv494. Epub 2016 Feb 3. J Antimicrob Chemother. 2016. PMID: 26846208 Review.
The introduction of potent combination antiretroviral therapy (cART) has had a remarkable impact on the natural history of HIV infection, leading to a dramatic decline in the mortality rate and a considerable increase in the life expectancy of HIV-positive people. . …
The introduction of potent combination antiretroviral therapy (cART) has had a remarkable impact on the natural history of HIV …
DOCK8 deficiency: Insights into pathophysiology, clinical features and management.
Biggs CM, Keles S, Chatila TA. Biggs CM, et al. Clin Immunol. 2017 Aug;181:75-82. doi: 10.1016/j.clim.2017.06.003. Epub 2017 Jun 15. Clin Immunol. 2017. PMID: 28625885 Free PMC article. Review.
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending beyond recurrent infections to include atopy, autoimmunity and cancer. ...This rev …
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency that exemplifies the broad clinical featur …
The long quest for neonatal screening for severe combined immunodeficiency.
Buckley RH. Buckley RH. J Allergy Clin Immunol. 2012 Mar;129(3):597-604; quiz 605-6. doi: 10.1016/j.jaci.2011.12.964. Epub 2012 Jan 24. J Allergy Clin Immunol. 2012. PMID: 22277203 Free PMC article. Review.
Early recognition of severe combined immunodeficiency (SCID) is a pediatric emergency because a diagnosis before live vaccines or nonirradiated blood products are given and before development of infections permits lifesaving unfractionated HLA-identical or T cell-de …
Early recognition of severe combined immunodeficiency (SCID) is a pediatric emergency because a diagnosis before live vaccines …
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J. Morin G, et al. Hum Mutat. 2020 Jan;41(1):17-37. doi: 10.1002/humu.23899. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31448844 Review.
Recessive loss-of-function mutations impair SOCE and cause combined immunodeficiency, while dominant gain-of-function mutations induce excessive extracellular Ca(2+) entry and cause tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK). ...
Recessive loss-of-function mutations impair SOCE and cause combined immunodeficiency, while dominant gain-of-function mutation …
105 results