Cd40 Deficiency: A Unique Adult Patient With Hyper Immunoglobulin M Syndrome and Normal Expression of Cd40

Murguía-Favela, Luis; Sharfe, Nigel; Karanxha, Ariana; Bates, Andrea; Dadi, Harjit; Cimpean, Lorand; Roifman, Chaim M.

doi:10.14785/lymphosign-2017-0004

Cited by 7 publications

(8 citation statements)

References 12 publications

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“…CD40L deficiency has an X linked inheritance whereas CD40 is inherited in an autosomal recessive manner. Both conditions can result in a clinical picture of combined immunodeficiency and are indistinguishable clinically [ 12 , 123 ].…”

Section: Combined Immunodeficiency (Cid) Generally Less Profound Than...mentioning

confidence: 99%

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Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

George

Govindaraj

2023

Pathogens

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Enhanced susceptibility to microbes, often resulting in severe, intractable and frequent infections due to usually innocuous organisms at uncommon sites, is the most striking feature in individuals with an inborn error of immunity. In this narrative review, based on the International Union of Immunological Societies’ 2022 (IUIS 2022) Update on phenotypic classification of human inborn errors of immunity, the focus is on commonly encountered Combined Immunodeficiency Disorders (CIDs) with susceptibility to infections. Combined immune deficiency disorders are usually commensurate with survival beyond infancy unlike Severe Combined Immune Deficiency (SCID) and are often associated with clinical features of a syndromic nature. Defective humoral and cellular immune responses result in susceptibility to a broad range of microbial infections. Although disease onset is usually in early childhood, mild defects may present in late childhood or even in adulthood. A precise diagnosis is imperative not only for determining management strategies, but also for providing accurate genetic counseling, including prenatal diagnosis, and also in deciding empiric treatment of infections upfront before investigation reports are available.

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Section: Combined Immunodeficiency (Cid) Generally Less Profound Than...mentioning

confidence: 99%

“…Most common humoral antibody deficiency observed is igG4 deficiency followed by IgA deficiency. A significant number of patients may present with features of hyper IgM [ 12 , 155 , 156 ]. Some patients may also have normal immunoglobulin levels [ 93 ].…”

Section: Dna Repair Defects Other Than Those Listed In Tablementioning

confidence: 99%

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

George

Govindaraj

2023

Pathogens

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“…IgA serves an important role in mucosal immunity (in parts of body's secretory organs, respiratory tract, digestive tract, and skin surface) to prevent the attachment of bacteria and viruses to the mucous membrane (Bonner et al, 2009;Fagarasan & Honjo, 2003;Macpherson & Slack, 2007;Schat et al, 2013). Meanwhile, IgM has a role as a binder of bacteria that attached to the mucosa (Jazayeri et al, 2019;Murguia-Favela et al, 2017;Sharma, 2017). Complement is a part of cellular immunity and has an important role in T lymphocytes.…”

Section: Effect Of Amp Addition On Immune Response and Antioxidant Activity Of Broilermentioning

confidence: 99%

A Meta-analysis of Antimicrobial Peptide Effects on Intestinal Bacteria, Immune Response, and Antioxidant Activity of Broilers

Sholikin

Wahyudi

Jayanegara

et al. 2021

Trop. Anim. Sci. J.

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This study used a meta-analysis to systematically assess the effect of antimicrobial peptide (AMP) addition on the number of bacteria, immune responses, and antioxidant activity of broilers. The database was compiled from 29 post evaluation articles that were found in search engines consisted of 36 experiments and 111 data. The mixed model method was used to assess the effect of AMP, with AMP addition level as a fixed effect and experiment as a random effect. The fixed effect was tested for linear and quadratic models. The quadratic model was retained when significant at p<0.05 but turned into its corresponding linear model when insignificant. In the starter phase, AMP addition decreased the number of bacteria in the ileum (coliform and total aerobic bacteria (TAB); (p<0.05), the caecum (Clostridium spp., Escherichia coli, coliform, and lactic acid bacteria (LAB); p<0.05), and excreta (Clostridium spp.; p<0.1). Similarly, the number of bacteria also declined in the ileum (Escherichia coli, p<0.05; TAB, p<0.1), the caecum (LAB; p<0.1), and excreta (Clostridium spp.; p<0.05) of broilers in the finisher phase. There were significant improvements in immune response and antioxidant activity in starter broiler, as indicated by the titer of Newcastle disease (ND) antibody, bursal index, spleen index, and thymus index (p<0.05) due to AMP addition. Variables of immunoglobulin M (IgM), cluster of differentiation 4 (CD4), ND antibody titer, bursal index, spleen index, and thymus index were also significantly increased (p<0.05) while superoxide dismutase activity (SOD activity) tended to increase (p<0.1) in finisher broiler following the AMP addition. In short, AMP addition is able to suppress the number of pathogenic bacteria and increase the immune response and antioxidant activity of broilers.

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“…CD40 deficiency is rare and inherited in an autosomal recessive (AR) manner ( 26 ). Recent reports have enumerated only 17 patients from 13 unrelated families with CD40 deficiency ( 26 , 27 ). The clinical and immunological phenotype of impaired CSR and SHM is similar to that seen in CD40L deficiency, with one important difference; B cells from CD40 deficient patients are unable to undergo class switching in vitro upon activation with agonists and cytokines as per their intrinsic defect.…”

Section: Hyper-igm Syndromesmentioning

confidence: 99%

“…Most patients lack expression of CD40 on the surface of B cells and monocytes ( 3 – 8 , 26 ). Although rare, there are reports of CD40 deficient patients in whom a dysfunctional CD40 protein could still be detected ( 27 , 28 ).…”

Section: Hyper-igm Syndromesmentioning

confidence: 99%

Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects

et al. 2018

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Antibody production and function represent an essential part of the immune response, particularly in fighting bacterial and viral infections. Multiple immunological phenotypes can result in dysregulation of the immune system humoral compartment, including class-switch recombination (CSR) defects associated with hyper-IgM (HIGM) syndromes. The CSR/HIGM syndromes are defined by the presence of normal or elevated plasma IgM levels in the context of low levels of switched IgG, IgA, and IgE isotypes. Recently described autosomal dominant gain-of-function (GOF) mutations in PIK3CD and PIK3R1 cause combined immunodeficiencies that can also present as CSR/HIGM defects. These defects, their pathophysiology and derived clinical manifestations are described in depth. Previously reported forms of CSR/HIGM syndromes are briefly reviewed and compared to the phosphoinositide 3-kinase (PI3K) pathway defects. Diseases involving the PI3K pathway represent a distinctive subset of CSR/HIGM syndromes, presenting with their own characteristic clinical and laboratory attributes as well as individual therapeutic approaches.

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Cd40 Deficiency: A Unique Adult Patient With Hyper Immunoglobulin M Syndrome and Normal Expression of Cd40

Cited by 7 publications

References 12 publications

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

A Meta-analysis of Antimicrobial Peptide Effects on Intestinal Bacteria, Immune Response, and Antioxidant Activity of Broilers

Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects

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