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Page 1
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. ...The syndrome is now known …
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from d …
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. ...New guidelines suggest screening for a 22q11.2 deletion in the patient with tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, conoventricular septa …
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. ...New guidelines suggest screening for …
Definition and classification of hereditary angioedema.
Proper SP, Lavery WJ, Bernstein JA. Proper SP, et al. Allergy Asthma Proc. 2020 Nov 1;41(Suppl 1):S03-S07. doi: 10.2500/aap.2020.41.200040. Allergy Asthma Proc. 2020. PMID: 33109317 Review.
In most cases, HAE is caused by a deficiency of C1-esterase inhibitor (C1-INH) on the Serpin Family G Member 1 (SERPING1) gene, either through decreased amounts of C1-INH protein (C1-INH-HAE, type 1) or decreased function of C1-INH (C1-INH-HAE, type 2). HAE with nor …
In most cases, HAE is caused by a deficiency of C1-esterase inhibitor (C1-INH) on the Serpin Family G Member 1 (SERPING1) gene, eithe …
Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE.
Urschel D, Hernandez-Trujillo VP. Urschel D, et al. Clin Rev Allergy Immunol. 2022 Aug;63(1):99-105. doi: 10.1007/s12016-022-08927-z. Epub 2022 Feb 8. Clin Rev Allergy Immunol. 2022. PMID: 35133619 Review.
Improved genetic testing has led to recognition of a diverse group of disorders of inborn errors of immunity that present as primarily T-cell defects. These disorders present with variable degrees of immunodeficiency, autoimmunity, multiple organ system dysfunction, …
Improved genetic testing has led to recognition of a diverse group of disorders of inborn errors of immunity that present as primarily T-cel …
Developmental trajectories in 22q11.2 deletion.
Swillen A, McDonald-McGinn D. Swillen A, et al. Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):172-81. doi: 10.1002/ajmg.c.31435. Epub 2015 May 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 25989227 Free PMC article. Review.
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,000-4,000 live births and involving haploinsufficiency of 50 genes resulting in a multisystem disorder. ...Most commo …
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome a …
Whipple's disease.
Bai JC, Mazure RM, Vazquez H, Niveloni SI, Smecuol E, Pedreira S, Mauriño E. Bai JC, et al. Clin Gastroenterol Hepatol. 2004 Oct;2(10):849-60. doi: 10.1016/s1542-3565(04)00387-8. Clin Gastroenterol Hepatol. 2004. PMID: 15476147 Review.
Weight loss, chronic diarrhea, arthralgias, and low-grade fever are characteristic features in most patients. Although gastrointestinal compromise is very common, atypical clinical forms are being increasingly recognized. ...Pathological specimens show macrophage infiltrat …
Weight loss, chronic diarrhea, arthralgias, and low-grade fever are characteristic features in most patients. Although gastrointestinal …
[Immunological alterations in common variable immunodeficiency].
Berrón-Ruiz L. Berrón-Ruiz L. Rev Alerg Mex. 2017 Jan-Mar;64(1):87-108. doi: 10.29262/ram.v64i1.227. Rev Alerg Mex. 2017. PMID: 28188716 Review. Spanish.
Cellular phenotypes and abnormalities have been described both in adaptive and innate immune response. Several classifications of common variable immunodeficiency are based on defects found on T and B cells, which have been correlated with clinical manifestat …
Cellular phenotypes and abnormalities have been described both in adaptive and innate immune response. Several classifications of com …
Gastrointestinal and hepatic manifestations of primary immune deficiency diseases.
Al-Muhsen SZ. Al-Muhsen SZ. Saudi J Gastroenterol. 2010 Apr-Jun;16(2):66-74. doi: 10.4103/1319-3767.61230. Saudi J Gastroenterol. 2010. PMID: 20339173 Free PMC article. Review.
Primary immune deficiency diseases (PIDs) are a heterogeneous group of inherited diseases characterized by variable genetic immune defects, conferring susceptibility to recurrent infections. ...To improve the awareness of gastroenterologists and related health care …
Primary immune deficiency diseases (PIDs) are a heterogeneous group of inherited diseases characterized by variable genetic immune …
Thalidomide in gastrointestinal disorders.
Bousvaros A, Mueller B. Bousvaros A, et al. Drugs. 2001;61(6):777-87. doi: 10.2165/00003495-200161060-00006. Drugs. 2001. PMID: 11398909 Review.
Thalidomide was originally marketed as a sedative, but was removed from the market in 1961 after it was associated with an epidemic of severe birth defects. Subsequently, it has been shown to have therapeutic efficacy in a number of the gastrointestinal tract condit …
Thalidomide was originally marketed as a sedative, but was removed from the market in 1961 after it was associated with an epidemic of sever …
Overlap, common features, and essential differences in pediatric granulomatous inflammatory bowel disease.
Damen GM, van Krieken JH, Hoppenreijs E, van Os E, Tolboom JJ, Warris A, Yntema JB, Nieuwenhuis EE, Escher JC. Damen GM, et al. J Pediatr Gastroenterol Nutr. 2010 Dec;51(6):690-7. doi: 10.1097/MPG.0b013e3181dc0d73. J Pediatr Gastroenterol Nutr. 2010. PMID: 20683205 Review.
The noncaseating epithelioid granulomata will be unspecific. Bronchoalveolar lymphocytosis and abnormalities in pulmonary function are reported in sarcoidosis and in Crohn disease (CD) and CGD. ...Common susceptibility loci have been identified in CD and sarcoidosis. CD an …
The noncaseating epithelioid granulomata will be unspecific. Bronchoalveolar lymphocytosis and abnormalities in pulmonary function ar …
32 results