Common variable immunodeficiency disorder associated with bronchiectasis: a case report

Common variable immunodeficiency disorder (CVID) is the commonest type of primary immunodeficiency disorders (PIDs) characterized by hypogammaglobulinemia, defective specific antibody production and increased susceptibility of recurrent infections. Autoimmunity, neoplasm and lymphoproliferative disorders are usually associated with CVID. In most cases, the cause is unknown, but multiple gene mutations (10%) may be associated with CVID. Here, we report an eight years old girl with CVID presented with recurrent infections, growth failure, generalized lymphadenopathy and hepatosplenomegaly. Chest examination and radiological findings of this girl were consistent with bronchiectasis. Lack of awareness among health care providers is the reason for delayed diagnosis of several years for this girl. Therefore, it is essential to raise awareness regarding PID patients among the physicians to improve the quality of life.

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COMMON VARIABLE IMMUNODEFICIENCY DISORDER DIAGNOSED TROUGH GASTROSCOPY REVEALING NODULAR LYMPHOID HYPERPLASIA PRIMARY ASSESSED AS FAMILIAL ADENOMATOUS POLYPOSIS

10.26226/morressier.57c5383ad462b80296c9c853 ◽

2016 ◽

Author(s):

Anna Maria Pietrzak

Keyword(s):

Familial Adenomatous Polyposis ◽

Common Variable Immunodeficiency ◽

Lymphoid Hyperplasia ◽

Adenomatous Polyposis ◽

Nodular Lymphoid Hyperplasia ◽

Immunodeficiency Disorder ◽

Common Variable

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Delayed diagnosis in common variable immunodeficiency

The Journal of Pediatrics ◽

10.1016/j.jpeds.2009.04.019 ◽

2009 ◽

Vol 154 (6) ◽

pp. A1 ◽

Cited By ~ 1

Author(s):

Robert W. Wilmott

Keyword(s):

Common Variable Immunodeficiency ◽

Delayed Diagnosis ◽

Common Variable

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Current Challenges in Cystic Fibrosis Screening

Archives of Pathology & Laboratory Medicine ◽

10.5858/2003-127-1133-ccicfs ◽

2003 ◽

Vol 127 (9) ◽

pp. 1133-1139 ◽

Cited By ~ 1

Author(s):

Elaine Lyon ◽

Christine Miller

Keyword(s):

Cystic Fibrosis ◽

Health Care Providers ◽

Patient Information ◽

Phenotypic Expression ◽

Gene Mutations ◽

Care Providers ◽

Idiopathic Pancreatitis ◽

Advantages And Disadvantages ◽

Bilateral Absence ◽

Cf Transmembrane Conductance Regulator

Abstract Content.—This article gives an overview of the symptoms and mutations associated with classic and atypical cystic fibrosis (CF). Current testing methods for mutation detection in CF are discussed. Objectives.—Review testing for CF, including American College of Medical Genetics and American College of Obstetrics and Gynecology guidelines and recommendations regarding population screening for CF. Describe symptomatic and mutational differences between patients with classic CF and atypical CF, including monosymptomatic conditions such as congenital bilateral absence of the vas deferens, idiopathic pancreatitis, and chronic sinusitis. Explain the concern about predicting the phenotypic expression of the condition from the genotype. Discuss the challenges of CF testing, including the preanalytic, analytic, and postanalytic phases. List the current methods for detecting CF transmembrane conductance regulator gene mutations, specifying the advantages and disadvantages of each. Describe the basic patient information necessary for laboratories to provide accurate risk assessments, such as ethnicity and family history, and reasons for the test being conducted (carrier or affected status). Results.—The technical challenges of detecting the 25 recommended mutations are being met by commercially available reagents. Challenges remain for the preanalytic and postanalytic phases. Only with accurate patient information can laboratories provide specific risk reductions on the basis of a negative genetic test result. Conclusion.—As health care providers become better informed about the recommendations for CF testing and laboratories continue to increase the sensitivities of their assays, patients will benefit from increased screening efficiency and accuracy. This will allow affected individuals to receive prompt and effective treatment and carriers to enjoy an expanded number of reproductive options.

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Clinical and Autopsy Analysis of Delayed Diagnosis and Missed Injuries in Trauma Patients

The American Surgeon ◽

10.1177/000313480607200217 ◽

2006 ◽

Vol 72 (2) ◽

pp. 174-179

Author(s):

Om P. Sharma ◽

Diane M. Scala-Barnett ◽

Michael F. Oswanski ◽

Amy Aton ◽

Shekhar S. Raj

Keyword(s):

Health Care Providers ◽

Negative Impact ◽

Delayed Diagnosis ◽

P Value ◽

Care Providers ◽

Missed Injuries ◽

Impact On Survival ◽

Group 2 ◽

Trauma Deaths ◽

Group 1

Delayed diagnosis of injury (DDI) during hospitalization and missed injuries (MI) on autopsy in trauma deaths result in untoward outcomes. Autopsy is an effective educational tool for health care providers to evaluate trauma care. A retrospective study of trauma registry patients and coroner's records was categorized into groups 1 (alive patients) and 2 (trauma deaths) and analyzed. DDI incidence was similar in group 1 (1.8%) and group 2 (1.9%). Autopsy analysis (163 patients) yielded 139 MI in 94 patients (57.6%), <3 per cent of MI had negative impact on survival. Bony injuries comprised 68 per cent of DDI and 19 per cent of MI. Group 1 DDI patients were sicker with higher injury severity score (ISS: 16.07) than their cohorts (ISS 7.13, P value <0.05). These patients had higher Glasgow Coma Scale (14.41) and lower ISS (16.07) as compared with group 2 MI patients (ISS: 33.49, GCS: 6.45, P value <0.05). Autopsy rate was 99.5 per cent in trauma deaths, 57 per cent for nontrauma deaths, and 79 per cent for all deaths. Less than 3 per cent of MI had negative impact on survival. Routine ongoing patient assessment with pertinent diagnostic workup is essential in reducing DDI. Trauma autopsies reveal MI, which aid performance improvement (PI).

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Recommendations for the reporting of B cell populations in the context of common variable immunodeficiency disorder (CVID)

Pathology ◽

10.1016/j.pathol.2019.04.013 ◽

2019 ◽

Vol 51 (6) ◽

pp. 640-641

Author(s):

Louise Wienholt ◽

Michael Lane ◽

Alice Grey ◽

Tiffany Hughes

Keyword(s):

B Cell ◽

Common Variable Immunodeficiency ◽

Cell Populations ◽

Immunodeficiency Disorder ◽

Common Variable

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Expert Perspectives on Hereditary Angioedema: Key Areas for Advancements in Care across the Patient Journey

Allergy & Rhinology ◽

10.2500/ar.2016.7.0165 ◽

2016 ◽

Vol 7 (3) ◽

pp. ar.2016.7.0165 ◽

Cited By ~ 7

Author(s):

Aleena Banerji ◽

Murat Baş ◽

Jonathan A. Bernstein ◽

Isabelle Boccon-Gibod ◽

Maria Bova ◽

...

Keyword(s):

Health Care Providers ◽

Hereditary Angioedema ◽

Delayed Diagnosis ◽

Scientific Data ◽

Online Information ◽

Care Providers ◽

C1 Inhibitor Deficiency ◽

Patient Journey ◽

Diagnosis And Management ◽

Awareness Campaigns

Background Published literature documents the substantial burden of hereditary angioedema (HAE) with C1 inhibitor deficiency on the quality of life and work productivity of patients. However, despite advances in the field and the availability of guidelines to advise health care providers (HCP) on the diagnosis and management of HAE, there are still many challenges to overcome. For example, delayed diagnosis and misdiagnosis are common, and treatment practices vary worldwide. Objective An international expert panel was convened to consider opportunities for improvements that would benefit patients with HAE. Methods Based on professional and personal experiences, the experts developed schematics to describe the journey of patients through the following stages: (1) onset of symptoms and initial evaluation; (2) referral/diagnosis; and (3) management of HAE. More importantly, the panel identified key areas in which it was possible to optimize the support provided to patients and HCPs along this journey. Results Overall, this approach highlighted the need for wider dissemination of algorithms and scientific data to more effectively educate HCPs from multiple disciplines and the need for more research to inform appropriate treatment decisions. Furthermore, HAE awareness campaigns, accurate online information, and referral to patient advocacy groups were all considered helpful approaches to support patients. Conclusion More detailed and widespread information on the diagnosis and management of HAE is needed and may lead to advancements in care throughout the journey of the patient with HAE.

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