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1982 1
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212 results

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Quoted phrase not found in phrase index: "Immunodeficiency, common variable, 4"
Page 1
AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.
Green PHR, Paski S, Ko CW, Rubio-Tapia A. Green PHR, et al. Gastroenterology. 2022 Nov;163(5):1461-1469. doi: 10.1053/j.gastro.2022.07.086. Epub 2022 Sep 19. Gastroenterology. 2022. PMID: 36137844 Review.
If villous atrophy persists or the initial diagnosis of celiac disease was not confirmed, consider other causes of villous atrophy, including common variable immunodeficiency, autoimmune enteropathy, tropical sprue, and medication-induced enteropathy. ...BEST …
If villous atrophy persists or the initial diagnosis of celiac disease was not confirmed, consider other causes of villous atrophy, includin …
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
The phenotype included hypogammaglobulinemia (88.9%), reduced switched memory B cells (60.3%), and respiratory (83%) and gastrointestinal (28.6%) infections, thus characterizing the disorder as primary immunodeficiency. However, the high frequency of autoimmunity (57.4%), …
The phenotype included hypogammaglobulinemia (88.9%), reduced switched memory B cells (60.3%), and respiratory (83%) and gastrointestinal (2 …
Common variable immunodeficiency.
Tam JS, Routes JM. Tam JS, et al. Am J Rhinol Allergy. 2013 Jul-Aug;27(4):260-5. doi: 10.2500/ajra.2013.27.3899. Am J Rhinol Allergy. 2013. PMID: 23883805 Free PMC article.
Common variable immunodeficiency (CVID) is a common primary immunodeficiency characterized by a failure in B-cell differentiation with defective immunoglobulin production. ...
Common variable immunodeficiency (CVID) is a common primary immunodeficiency characterized by a failure i …
The pediatric common variable immunodeficiency - from genetics to therapy: a review.
Szczawinska-Poplonyk A, Schwartzmann E, Bukowska-Olech E, Biernat M, Gattner S, Korobacz T, Nowicki F, Wiczuk-Wiczewska M. Szczawinska-Poplonyk A, et al. Eur J Pediatr. 2022 Apr;181(4):1371-1383. doi: 10.1007/s00431-021-04287-6. Epub 2021 Dec 23. Eur J Pediatr. 2022. PMID: 34939152 Free PMC article. Review.
Common variable immunodeficiency (CVID) is the most prevalent antibody deficiency, characterized by remarkable genetic, immunological, and clinical heterogeneity. ...CONCLUSION: While pediatric CVID is a multifaceted and notorious disease, increasing the pedi …
Common variable immunodeficiency (CVID) is the most prevalent antibody deficiency, characterized by remarkable genetic, …
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
Andriessen MVE, Legger GE, Bredius RGM, van Gijn ME, Hak AE, Muller PCEH, Kamphuis S, Klouwer FCC, Kuijpers TW, Leavis HL, Nierkens S, Rutgers A, van der Veken LT, van Well GTJ, Mulders-Manders CM, van Montfrans JM. Andriessen MVE, et al. J Clin Immunol. 2023 Oct;43(7):1581-1596. doi: 10.1007/s10875-023-01521-8. Epub 2023 Jun 5. J Clin Immunol. 2023. PMID: 37277582 Free PMC article. Review.
Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease presentation. This paper provides a comprehensive overview of the Dutch DADA2 cohort. ...All patients had biallelic pathogenic variants in the …
Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease pre …
Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.
Costagliola G, Consolini R. Costagliola G, et al. Clin Exp Immunol. 2021 Sep;205(3):288-305. doi: 10.1111/cei.13620. Epub 2021 Jun 20. Clin Exp Immunol. 2021. PMID: 34008169 Free PMC article. Review.
Lymphadenopathies are evidenced in 15-20% of the patients with common variable immunodeficiency, while in other antibody deficiencies the prevalence is lower. They are also evidenced in different combined immunodeficiency disorders, including Omenn syn …
Lymphadenopathies are evidenced in 15-20% of the patients with common variable immunodeficiency, while in other antibod …
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A. Kotmayer L, et al. Br J Haematol. 2022 Nov;199(4):482-495. doi: 10.1111/bjh.18330. Epub 2022 Jun 26. Br J Haematol. 2022. PMID: 35753998 Free PMC article. Review.
GATA2 deficiency has been identified as the most common hereditary cause of MDS in adolescents with monosomy 7. Allogenic haematopoietic stem cell transplantation is the only curative option; however, chances of survival decrease with progression of immunodeficiency …
GATA2 deficiency has been identified as the most common hereditary cause of MDS in adolescents with monosomy 7. Allogenic haematopoie …
Uveitis and common variable immunodeficiency: data from the DEF-I study and literature review.
Pasquet F, Kodjikian L, Mura F, Riviere S, Harroche J, Blanc AP, Chaix F, Oksenhendler E, Seve P; DEF-I study group. Pasquet F, et al. Ocul Immunol Inflamm. 2012 Jun;20(3):163-70. doi: 10.3109/09273948.2012.674612. Epub 2012 Apr 17. Ocul Immunol Inflamm. 2012. PMID: 22506485 Review.
PURPOSE: To examine the relation between uveitis and common variable immunodeficiency (CVID). METHODS: Retrospective analysis of patients included in the French DEFI cohort of adults with CVID and of patients identified by reviewing the literature. ...CONCLUS …
PURPOSE: To examine the relation between uveitis and common variable immunodeficiency (CVID). METHODS: Retrospective an …
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.
Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most frequently velopharyngeal incompetence (VPI); immunodeficiency; hypocalcemia due to hypoparathyroidism; genitourinary anomalies; severe f …
Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most freq …
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry.
Correa-Jimenez O, Restrepo-Gualteros S, Nino G, Cunningham-Rundles C, Sullivan KE, Fuleihan RL, Gutierrez MJ. Correa-Jimenez O, et al. J Clin Immunol. 2023 Nov;43(8):2208-2220. doi: 10.1007/s10875-023-01593-6. Epub 2023 Nov 7. J Clin Immunol. 2023. PMID: 37932514
BACKGROUND: Bronchiectasis is a major respiratory complication in patients with common variable immunodeficiency (CVID) and is associated with recurrent pulmonary infections. ...Further study into predisposing conditions related to the development of bronchie …
BACKGROUND: Bronchiectasis is a major respiratory complication in patients with common variable immunodeficiency (CVID) …
212 results