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107 results

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Quoted phrase not found in phrase index: "Gastrointestinal defect and immunodeficiency syndrome"
Page 1
Clinical characteristics of 140 patients infected with SARS-CoV-2 in Wuhan, China.
Zhang JJ, Dong X, Cao YY, Yuan YD, Yang YB, Yan YQ, Akdis CA, Gao YD. Zhang JJ, et al. Allergy. 2020 Jul;75(7):1730-1741. doi: 10.1111/all.14238. Epub 2020 Feb 27. Allergy. 2020. PMID: 32077115
BACKGROUND: Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been widely spread. ...Older age, high number of comorbidities, and more prominent laboratory abnormalities were associated with seve …
BACKGROUND: Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has …
Hyper IgE Syndromes.
Gracci S, Novelli T, D'Elios S, Bernardini R, Peroni D. Gracci S, et al. Curr Pediatr Rev. 2024;20(3):253-264. doi: 10.2174/1573396320666230912103124. Curr Pediatr Rev. 2024. PMID: 37702167
The Hyper IgE Syndromes are rare primary immunodeficiencies characterized by eczema, recurrent skin and respiratory infections and elevated serum IgE levels. ...The main clinical manifestations are represented by newborn rash, eczema similar to atopic dermatitis, bacterial …
The Hyper IgE Syndromes are rare primary immunodeficiencies characterized by eczema, recurrent skin and respiratory infections and el …
Selective IgA deficiency.
Yel L. Yel L. J Clin Immunol. 2010 Jan;30(1):10-6. doi: 10.1007/s10875-009-9357-x. Epub 2010 Jan 26. J Clin Immunol. 2010. PMID: 20101521 Free PMC article. Review.
INTRODUCTION: Immunoglobulin A (IgA) deficiency is the most common primary immunodeficiency defined as decreased serum level of IgA in the presence of normal levels of other immunoglobulin isotypes. ...Despite this critical role, there may be some compensatory mecha …
INTRODUCTION: Immunoglobulin A (IgA) deficiency is the most common primary immunodeficiency defined as decreased serum level o …
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.
Banday AZ, Nisar R, Patra PK, Kaur A, Sadanand R, Chaudhry C, Bukhari STA, Banday SZ, Bhattarai D, Notarangelo LD. Banday AZ, et al. J Clin Immunol. 2023 Dec 22;44(1):17. doi: 10.1007/s10875-023-01633-1. J Clin Immunol. 2023. PMID: 38129705
Although numerous studies have provided a detailed description of CD40L deficiency, reports of CD40 deficiency are scarce. Herein, we describe the characteristics of all reported patients with CD40 deficiency. ...RESULTS: Systematic literature review revealed …
Although numerous studies have provided a detailed description of CD40L deficiency, reports of CD40 deficiency are scarce. Her …
Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.
Chandrasekaran P, Han Y, Zerbe CS, Heller T, DeRavin SS, Kreuzberg SA, Marciano BE, Siu Y, Jones DR, Abraham RS, Stephens MC, Tsou AM, Snapper S, Conlan S, Subramanian P, Quinones M, Grou C, Calderon V, Deming C, Leiding JW, Arnold DE, Logan BR, Griffith LM, Petrovic A, Mousallem TI, Kapoor N, Heimall JR, Barnum JL, Kapadia M, Wright N, Rayes A, Chandra S, Broglie LA, Chellapandian D, Deal CL, Grunebaum E, Lim SS, Mallhi K, Marsh RA, Murguia-Favela L, Parikh S, Touzot F, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Kang EM, Malech HL, Segre JA, Bryant CE, Holland SM, Falcone EL. Chandrasekaran P, et al. J Allergy Clin Immunol. 2023 Dec;152(6):1619-1633.e11. doi: 10.1016/j.jaci.2023.07.022. Epub 2023 Sep 1. J Allergy Clin Immunol. 2023. PMID: 37659505 Free article.
While conventional IBD therapies can treat CGD-IBD, their benefits must be weighed against the risk of infection. Understanding the impact of NOX2 defects on the intestinal microbiota may lead to the identification of novel CGD-IBD treatments. ...We observed enrichm …
While conventional IBD therapies can treat CGD-IBD, their benefits must be weighed against the risk of infection. Understanding the impact o …
Cryptosporidiosis in perspective.
Tzipori S. Tzipori S. Adv Parasitol. 1988;27:63-129. doi: 10.1016/s0065-308x(08)60353-x. Adv Parasitol. 1988. PMID: 3289331 Free PMC article. Review.
Cryptosporidiosis seems to cause diarrhoea in young ruminants, less frequently in pets. In birds the parasite has been observed in the gastrointestinal tract, without ill effect, and in the respiratory tract, in which clinical symptoms of variable severity have been …
Cryptosporidiosis seems to cause diarrhoea in young ruminants, less frequently in pets. In birds the parasite has been observed in th …
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR. Huizing M, et al. Hum Mutat. 2020 Mar;41(3):543-580. doi: 10.1002/humu.23968. Epub 2020 Jan 23. Hum Mutat. 2020. PMID: 31898847 Free PMC article.
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. ...All individuals with HPS exhibit albinism and a bleeding diathesis; additional features occur depending on the defect …
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of …
Infections and immunodeficiency in Down syndrome.
Ram G, Chinen J. Ram G, et al. Clin Exp Immunol. 2011 Apr;164(1):9-16. doi: 10.1111/j.1365-2249.2011.04335.x. Epub 2011 Feb 24. Clin Exp Immunol. 2011. PMID: 21352207 Free PMC article. Review.
Down syndrome (DS) is the most common genetic disease and presents with cognitive impairment, cardiac and gastrointestinal abnormalities, in addition to other miscellaneous clinical conditions. ...Secondary immunodeficiency due to metabolic or nutritio …
Down syndrome (DS) is the most common genetic disease and presents with cognitive impairment, cardiac and gastrointestinal …
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ. Cagdas D, et al. J Clin Immunol. 2018 May;38(4):484-493. doi: 10.1007/s10875-018-0496-9. Epub 2018 May 9. J Clin Immunol. 2018. PMID: 29744787
Genetic defect was documented in 11 patients. Four out of 11 patients had compound heterozygous defects. Three out of 4 patients with compound heterozygous defects had delayed-onset/late-onset ADA deficiency. Seven out of 11 patients with SCID had homo …
Genetic defect was documented in 11 patients. Four out of 11 patients had compound heterozygous defects. Three out of 4 patien …
Persistence of intact HIV-1 proviruses in the brain during antiretroviral therapy.
Sun W, Rassadkina Y, Gao C, Collens SI, Lian X, Solomon IH, Mukerji SS, Yu XG, Lichterfeld M. Sun W, et al. Elife. 2023 Nov 8;12:RP89837. doi: 10.7554/eLife.89837. Elife. 2023. PMID: 37938115 Free PMC article.
Here, we performed single-genome, near full-length HIV-1 next-generation sequencing to evaluate the proviral landscape in distinct anatomical compartments, including multiple CNS tissues, from 3 ART-treated participants at autopsy. While lymph nodes and, to a lesser extent, ga …
Here, we performed single-genome, near full-length HIV-1 next-generation sequencing to evaluate the proviral landscape in distinct anatomica …
107 results