The 10 warning signs

O’Sullivan, Michael; Cant, Andrew J.

doi:10.1097/aci.0b013e3283591534

Cited by 39 publications

(9 citation statements)

References 43 publications

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“…Respiratory symptoms represent an important marker pointing the attention toward PIDs22. In our study, lower respiratory tract infections were the most significant warning sign for diagnosing PID as it was reported in 22/26 patients.…”

Section: Discussionmentioning

confidence: 48%

Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy

et al. 2019

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Background Primary immunodeficiency diseases (PID) comprise a group of more than 300 diseases that affect development and /or function of the immune system. Objectives The aim of this study was diagnosis of PID among a suspected group of neonates and infants within the first six months of life as well as identifying the warning signs of PID characteristic to this period. Method Fifty neonates presenting with warning signs of PID were enrolled in the study. Results The study revealed that twenty six patients (52%) were diagnosed with Primary Immunodeficiency, T cell/combined immunodeficiency were noted as the most common PID class (88.5%) with fourteen T-B-SCID patients (70%) and six T-B+ SCID patients (30%), phagocytic disorders were estimated to be 7.7% while 3.8% were unclassified immunodeficiency. The mean age of presentation for PID group was 1.42±1.38 months with a diagnostic lag of 3.08±1.78 months. Consanguinity was positive in 76.9% of the PID group. Lower respiratory tract infections, persistent fungal infections and lymphopenia were the most significant warning signs for diagnosing PID with a p value of (0.01). Combined, lower respiratory tract infections, fungal infections and lymphopenia were 12.3 times more likely to be associated with PID. Conclusion Focused screening in high risk neonates proved to be a valuable tool for diagnosis of PID disorders.

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Section: Discussionmentioning

confidence: 48%

Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy

et al. 2019

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“…through a system of warning signs and educational activities. An effective algorithm based on the use of electronic patient health records to support non-expert primary and secondary care physicians to identify potential PID is not yet available and has to be developed with high priority [ 32 – 35 ]. It’s been estimated that the treatment cost of undiagnosed PID patients in the U.S was 5 times higher than of those diagnosed and receiving Ig replacement therapy [ 36 ].…”

Section: Discussionmentioning

confidence: 99%

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

Odnoletkova

Kindle

Quinti

et al. 2018

Orphanet J Rare Dis

124

114

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BackgroundCommon variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. The burden of CVID in Europe has not been previously estimated. We performed a retrospective analysis of the European Society for Immunodeficiencies (ESID) registry data on the subset of patients classified by their immunologist as CVID and treated between 2004 and 2014. The registered deaths and comorbidities were used to calculate the annual average age-standardized rates of Years of Life Lost to premature death (YLL), Years Lost to Disability (YLD) and Disability Adjusted Life Years (DALY=YLL + YLD). These outcomes were expressed as a rate per 105 of the CVID cohort (the individual disease burden), and of the general population (the societal disease burden).ResultsData of 2700 patients from 23 countries were analysed. Annual comorbidity rates: bronchiectasis, 21.9%; autoimmunity, 23.2%; digestive disorders, 15.6%; solid cancers, 5.5%; lymphoma, 3.8%, exceeded the prevalence in the general population by a factor of 34.0, 7.6, 8.1, 2.4 and 32.6, respectively. The comorbidities of CVID caused 8722 (6069; 12,363) YLD/105 in this cohort, whereas 44% of disability burden was attributable to infections and bronchiectasis. The total individual burden of CVID was 36,785 (33,078, 41,380) DALY/105. With estimated CVID prevalence of ~ 1/ 25,000, the societal burden of CVID ensued 1.5 (1.3, 1.7) DALY/105 of the general population.In exploratory analysis, increased mortality was associated with solid tumor, HR (95% CI): 2.69 (1.10; 6.57) p = 0.030, lymphoma: 5.48 (2.36; 12.71) p < .0001 and granulomatous-lymphocytic interstitial lung disease: 4.85 (1.63; 14.39) p = 0.005. Diagnostic delay (median: 4 years) was associated with a higher risk of death: 1.04 (1.02; 1.06) p = .0003, bronchiectasis: 1.03 (1.01; 1.04) p = .0001, solid tumor: 1.08 (1.04; 1.11) p < .0001 and enteropathy: 1.02 (1.00; 1.05) p = .0447 and stayed unchanged over four decades (p = .228).ConclusionsWhile the societal burden of CVID may seem moderate, it is severe to the individual patient. Delay in CVID diagnosis may constitute a modifiable risk factor of serious comorbidities and death but showed no improvement. Tools supporting timely CVID diagnosis should be developed with high priority.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0941-0) contains supplementary material, which is available to authorized users.

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“…The non-infectious complications and manifestations usually appear during the course of PIDs in the adolescent or adult age. Among all age categories, respiratory symptoms present an important marker pointing the attention toward PIDs, although it should be assumed that the sensitivity of particular “warning” signs differs (10). The most relevant are these signs:

positive family history for PIDs,

more than 2-months antibiotic therapy for PIDs with the dysfunction of neutrophils,

failure to thrive ± chronic diarrhea for T-cellular immunodeficiencies.

…”

Section: Respiratory Manifestations Of Primary Immunodeficienciesmentioning

confidence: 99%

Pulmonary Manifestations of Primary Immunodeficiency Disorders in Children

et al. 2014

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Primary immunodeficiencies (PIDs) are inherited disorders in which one or several components of immune system are decreased, missing, or of non-appropriate function. These diseases affect the development, function, or morphology of the immune system. The group of PID comprises more than 200 different disorders and syndromes and the number of newly recognized and revealed deficiencies is still increasing. Their clinical presentation and complications depend on the type of defects and there is a great variability in the relationship between genotypes and phenotypes. A variation of clinical presentation across various age categories is also presented and children could widely differ from adult patients with PID. Respiratory symptoms and complications present a significant cause of morbidity and also mortality among patients suffering from different forms of PIDs and they are observed both in children and adults. They can affect primarily either upper airways (e.g., sinusitis and otitis media) or lower respiratory tract [e.g., pneumonia, bronchitis, bronchiectasis, and interstitial lung diseases (ILDs)]. The complications from lower respiratory tract are usually considered to be more important and also more specific for PIDs and they determinate patients’ prognosis. The spectrum of the causal pathogens usually demonstrates typical pattern characteristic for each PID category. The respiratory signs of PIDs can be divided into infectious (upper and lower respiratory tract infections and complications) and non-infectious (ILDs, bronchial abnormalities – especially bronchiectasis, malignancies, and benign lymphoproliferation). Early diagnosis and appropriate therapy can prevent or at least slow down the development and course of respiratory complications of PIDs.

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The 10 warning signs

Abstract: Further development and refinement of early warning signs in light of the growing knowledge of how PIDs manifest clinically may allow relatively simple yet effective guidelines targeted at different groups to better detect PID.

Cited by 39 publications

References 43 publications

Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy

Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

Pulmonary Manifestations of Primary Immunodeficiency Disorders in Children

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