Defects of the Innate Immune System and Related Immune Deficiencies

Akar-Ghibril, Nicole

doi:10.1007/s12016-021-08885-y

Cited by 20 publications

(12 citation statements)

References 114 publications

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“…In some cases, immune cells directly identify microbial ligands (such as bacterial flagellin and double-stranded RNA) or detect distinct pathogen motifs known as pathogen-associated molecular patterns ( 35 ). In other cases, innate immune receptors recognize molecules related to a sterile tissue damage called danger-associated molecular patterns ( 36 ). Germline-encoded pattern recognition receptors (PRRs), such as Toll-like receptors, C-type lectin receptors (CLRs), and nucleotide oligomerization domain-like receptors (NOD-like receptors or NLRs), can identify these signals ( 37 ).…”

Section: The Innate Immune System and Inflammation In The Central Ner...mentioning

confidence: 99%

NLRP1 Inflammasomes: A Potential Target for the Treatment of Several Types of Brain Injury

Min

Chai³

et al. 2022

Front. Immunol.

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NOD-like receptor (NLR) family pyrin domain-containing 1 (NLRP1) is a member of the NLR family. The NLRP1 inflammasome consists of the NLRP1 protein, the adaptor protein apoptosis-associated speck-like protein containing a CARD domain, and the effector molecule pro-caspase-1. When stimulated, the inflammasome initiates the cleavage of pro-caspase-1 and converts it into its active form, caspase-1; then, caspase-1 facilitates the cleavage of the proinflammatory cytokines interleukin-1β and interleukin-18 into their active and secreted forms. In addition, caspase-1 also mediates the cleavage of gasdermin D, which leads to pyroptosis, an inflammatory form of cell death. Pathological events that damage the brain and result in neuropathological conditions can generally be described as brain injury. Neuroinflammation, especially that driven by NLRP1, plays a considerable role in the pathophysiology of brain injury, such as early brain injury (EBI) of subarachnoid hemorrhage, ischemic brain injury during stroke, and traumatic brain injury (TBI). In this article, a thorough overview of NLRP1 is presented, including its structure, mechanism of activation, and role in neuroinflammation. We also present recent studies on NLRP1 as a target for the treatment of EBI, ischemic brain injury, TBI, and other types of brain injury, thus highlighting the perspective of NLRP1 as an effective mediator of catastrophic brain injury.

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Section: The Innate Immune System and Inflammation In The Central Ner...mentioning

confidence: 99%

NLRP1 Inflammasomes: A Potential Target for the Treatment of Several Types of Brain Injury

Min

Chai³

et al. 2022

Front. Immunol.

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“…The majority of patients with XR- NEMO deficiency suffered from disseminated mycobacterial diseases. However, recurrent infection with Haemophilus influenzae and several other Gram-negative bacteria was also reported ( 28 ).…”

Section: An Updated Findings On Molecular Defects and Immunological M...mentioning

confidence: 99%

An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China

et al. 2022

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Mendelian susceptibility to mycobacterial disease (MSMD) arises from a group of rare inherited errors of immunity that result in selective susceptibility of otherwise healthy people to clinical disease caused by low virulence strains of mycobacteria, such as Mycobacterium bovis Bacille Calmette-Guérin (BCG) and environmental mycobacteria. Patients have normal resistance to other pathogens and no overt abnormalities in routine immunological and hematological evaluations for primary immunodeficiencies. At least 19 genes and 34 clinical phenotypes have been identified in MSMD. However, there have been no systematic reports on the clinical characteristics and genetic backgrounds of MSMD in China. In this review, on the one hand, we summarize an update findings on molecular defects and immunological mechanisms in the field of MSMD research globally. On the other hand, we undertook a systematic review of PubMed (MEDLINE), the Cochrane Central Register of Controlled Trials (CENTRAL), Web of Science, EMBASE, CNKI, and Wanfang to identify articles published before Jan 23, 2022, to summarize the clinical characteristics, diagnosis, treatment, and prognosis of MSMD in China. All the English and Chinese publications were searched without any restriction on article types.

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“…A large group of defects in intrinsic and innate immunity arise from gene mutations affecting core molecules of the TLR and TNFR-signaling pathway, involving the genes NEMO, IKBA, IKBKA, IKBKB, HOIL1, and HOIP, or, in mutations impairing the TLR-IL-1R pathway, like those in IRAK4, MYD88, TIRAP, and IRAK1 (68,69). Some of such diseases manifest in infancy or in early childhood.…”

Section: Defects In Intrinsic and Innate Immunitymentioning

confidence: 99%

Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations

et al. 2022

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In this article we revised the literature on Inborn Errors of Immunity (IEI) keeping our focus on those diseases presenting with intrauterine or perinatal clinical manifestations. We opted to describe our findings according to the IEI categories established by the International Union of Immunological Societies, predominantly addressing the immunological features of each condition or group of diseases. The main finding is that such precocious manifestations are largely concentrated in the group of primary immune regulatory disorders (PIRDs) and not in the group of classical immunodeficiencies. The IEI categories with higher number of immunological manifestations in utero or in perinatal period are: (i) diseases of immune dysregulation (HLH, IPEX and other Tregopathies, autosomal recessive ALPS with complete lack of FAS protein expression) and (ii) autoinflammatory diseases (NOMID/CINCA, DIRA and some interferonopathies, such as Aicardi-Goutières syndrome, AGS, and USP18 deficiency). Regarding the other IEI categories, some patients with Omenn syndrome (an atypical form of SCID), and a few X-linked CGD patients present with clinical manifestations at birth associated to immune dysregulation. The most frequent clinical features were hydrops fetalis, intrauterine growth retardation leading to fetal loss, stillbirths, and prematurity, as in HLH and IPEX. Additionally, pseudo-TORCH syndrome was observed in AGS and in USP18 deficiency. The main goal of our review was to contribute to increasing the medical awareness of IEI with intrauterine and perinatal onset, which has obvious implications for diagnosis, treatment, and genetic counseling.

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Defects of the Innate Immune System and Related Immune Deficiencies

Cited by 20 publications

References 114 publications

NLRP1 Inflammasomes: A Potential Target for the Treatment of Several Types of Brain Injury

NLRP1 Inflammasomes: A Potential Target for the Treatment of Several Types of Brain Injury

An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China

Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations

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