Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation

Pieniawska-Śmiech, Karolina; Pasternak, Gerard; Lewandowicz-Uszyńska, Aleksandra; Jutel, Marek

doi:10.3390/jcm11144220

Cited by 17 publications

(12 citation statements)

References 143 publications

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“…However, they are common features of IEI, indeed diseases of immune dysregulation comprise one category in the IUIS classification. 19 This category includes familial haemophagocytic lymphohistiocytosis (HLH), autoimmune lymphoproliferative syndrome (ALPS) and regulatory T-cell disorders. 6 Allergies are immunological disorders and may be presenting features of IEI syndromes, such as DOCK-8.…”

Section: Warning Signsmentioning

confidence: 99%

“…Atopic dermatitis is a feature of Wiskott Aldrich syndrome and autosomal dominant hyper IgE syndrome. 19 Autoimmunity is a common feature of IEI with a 120 times increased risk of autoimmune cytopaenia, 80 times increased risk of inflammatory bowel disease and 40 times increased risk of arthritis. 20 Therefore, the physician should also be alert to immunodysregulatory phenomena as potential features of IEI.…”

Section: Warning Signsmentioning

confidence: 99%

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Recurrent or unusual infections in children – when to worry about inborn errors of immunity

Reilly

Emonts

2023

Therapeutic Advances in Infection

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Recurrent infections are a common presenting feature in paediatrics and, while most times considered part of normal growing up, they are also a classical hallmark of inborn errors of immunity (IEI). We aimed to outline the value of currently used signs for IEI and the influence of the changing epidemiology of infectious diseases due to implementation of new vaccines and the effect of the COVID-19 pandemic on the assessment of children with recurrent infections. Warning signs for IEI have been developed, but the supporting evidence for their effectiveness is limited, and immune dysregulation is more commonly recognised as a feature for IEI, making reliable identification of children who should be screened for IEI on clinical grounds difficult. In addition, the epidemiology of infectious diseases is changing due to restrictions related to Covid-19 as well as immunisations, which may change the threshold to screen children for IEI. Treatments for IEI are evolving and are often more effective and less complicated when started early. Screening for IEI can be initiated by the non-immunologist and should be considered early to ensure optimal treatment outcomes.

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Section: Warning Signsmentioning

confidence: 99%

Section: Warning Signsmentioning

confidence: 99%

Recurrent or unusual infections in children – when to worry about inborn errors of immunity

Reilly

Emonts

2023

Therapeutic Advances in Infection

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“…It is hypothesized that activation of procalpain may render WAS patients more susceptible to enhanced cleavage of CD43 and gp115, thereby partially disrupting cell cytoskeleton morphology resembling characteristic features found in individuals affected by this syndrome [ 40 ]. The laboratory diagnosis of WAS involves a combination of clinical evaluation, medical history assessment, and specialized laboratory tests [ 41 ]. To make a definitive diagnosis, genetic testing is typically performed to identify mutations in the WASP gene, which is located on the short arm of the X chromosome [ 41 ].…”

Section: Reviewmentioning

confidence: 99%

Guardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management

Peddi,

Vuppalapati,

Sreenivasulu

et al. 2023

Cureus

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Primary immunodeficiency disorders (PIDs) are a heterogeneous group of genetic conditions profoundly impacting immune function. The investigation spans various PID categories, offering insights into their distinct pathogenic mechanisms and clinical manifestations. Within the adaptive immune system, B-cell, T-cell, and combined immunodeficiencies are dissected, emphasizing their critical roles in orchestrating effective immune responses. In the realm of the innate immune system, focus is directed toward phagocytes and complement deficiencies, underscoring the pivotal roles of these components in initial defense against infections. Furthermore, the review delves into disorders of immune dysregulation, encompassing hemophagocytic lymphohistiocytosis (HLH), autoimmune lymphoproliferative syndrome (ALPS), immune dysregulation, polyendocrinopathy, enteropathy, and X-linked(IPEX), and autoimmunity polyendocrinopathy candidiasis-ectodermal dystrophy(APECED), elucidating the intricate interplay between immune tolerance and autoimmunity prevention. Diagnostic strategies for PIDs are explored, highlighting advancements in genetic and molecular techniques that enable precise identification of underlying genetic mutations and alterations in immune function. We have also outlined treatment modalities for PIDs, which often entail a multidisciplinary approach involving immunoglobulin replacement, antimicrobial prophylaxis, and, in select cases, hematopoietic stem cell transplantation. Emerging therapies, including gene therapy, hold promise for targeted interventions. In essence, this review encapsulates the complexity of PIDs, emphasizing the critical importance of early diagnosis and tailored therapeutic interventions. As research advances, a clearer understanding of these disorders emerges, fostering optimism for enhanced patient care and management in the future.

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“…Inborn errors of immunity (IEI) comprise a heterogeneous group of inherited disorders affecting the immune system ( 1 ). Previously, IEI were known as primary immunodeficiency disorders.…”

Section: Introductionmentioning

confidence: 99%

Anxiety in Polish adult patients with inborn errors of immunity: a cross-sectional study

Grochowalska,

Ziętkiewicz,

Nowicka-Sauer

et al. 2024

Front. Psychiatry

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BackgroundPatients with inborn errors of immunity (IEI) experience recurrent infections, autoimmunity, and malignancies. Owing to repeated medical procedures, the need for constant treatment and surveillance, and the unpredictable course of the disease, patients with IEI are prone to develop mental health disorders, including anxiety. In this study, we aimed to assess the prevalence and level of anxiety symptoms in adult Polish patients with IEI and explore the determinants of anxiety in this group of patients.MethodsData from 105 Polish patients with IEI were collected via the hospital anxiety and depression scale (HADS), brief illness perception questionnaire (B-IPQ), illness cognition questionnaire (ICQ), Pittsburgh sleep quality index (PSQI), and a questionnaire on general health and demographic data. For statistical analyses of data, the normality of distribution of quantitative data was assessed, and internal consistency of tests was investigated using Cronbach’s alpha coefficient; moreover, we performed the analysis of correlations and between-group differences, and path analysis to explore causal relationships. Significance was considered at p < 0.050.ResultsThirty-eight (36.2%) patients had anxiety symptoms (HADS-A ≥ 8); 14 (13.3%) patients had severe anxiety (score ≥ 11), and 24 (22.9%) had moderate anxiety (score of 8–10). Patients with poor sleep quality, higher pain frequency, younger age, and no fixed income had higher anxiety scores than others. Emotional and cognitive representations of illness were positively correlated with anxiety levels. Intense anxiety was related to more negative illness perception, higher helplessness, lower illness acceptance, and lower perceived benefits.DiscussionAnxiety is common in patients with IEI. However, results indicate that it is not related to a more severe course of IEI or several comorbidities, whereas, pain frequency and poor sleep quality were identified to be important clinical factors for anxiety. Because anxiety was related to negative illness perception, psychological therapy may apply to this group of patients.

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Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation

Cited by 17 publications

References 143 publications

Recurrent or unusual infections in children – when to worry about inborn errors of immunity

Recurrent or unusual infections in children – when to worry about inborn errors of immunity

Guardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management

Anxiety in Polish adult patients with inborn errors of immunity: a cross-sectional study

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