scholarly journals Neutropenia in Primary Immunodeficiency Diseases

2021 ◽  
Author(s):  
Neslihan Edeer Karaca
Keyword(s):  
Primary Immunodeficiency ◽  
White Blood Cells ◽  
Neutrophil Granulocytes ◽  
Primary Immunodeficiency Diseases ◽  
Comprehensive Overview ◽  
Inflammatory Reactions ◽  
Immunodeficiency Diseases ◽  
Presenting Symptoms ◽  
Life Threatening ◽  
Severe Immunodeficiency

Phagocytes including neutrophil granulocytes and macrophages are important cells of the innate immune system whose primary function is to ingest and destroy microorganisms. Neutrophils help their host fight infections by phagocytosis, degranulation, and neutrophil extracellular traps. Neutrophils are the most common type of circulating white blood cells and the principal cell type in acute inflammatory reactions. A total absence of neutrophils or a significant decrease in their number leads to severe immunodeficiency that renders patients vulnerable to recurrent infections by Staphylococcus aureus and Gram-negative bacteria being the most life-threatening. Neutropenia may be classified as mild, moderate or severe in terms of numbers in the peripheral blood, and intermittent, cyclic, or chronic in terms of duration. Besides well-known classic severe congenital neutropenia, chronic neutropenia appears to be associated with an increasing number of primary immunodeficiency diseases (PIDs), including those of myeloid and lymphoid lineage. A comprehensive overview of the diverse clinical presenting symptoms, classification, aetiological and genetic etiologies of chronic isolated and syndromic neutropenia is aimed to be reviewed.

scholarly journals Cutaneous manifestations in primary immunodeficiency diseases

2020 ◽  
Vol 0 ◽  
pp. 1-8
Author(s):  
Fibin Thanveer
Keyword(s):  
Primary Immunodeficiency ◽  
Skin Diseases ◽  
Primary Immunodeficiency Diseases ◽  
Inherited Disorders ◽  
Inborn Errors ◽  
Cutaneous Manifestations ◽  
Immunodeficiency Diseases ◽  
Presenting Symptoms ◽  
Severe Infections ◽  
The Common

Primary immunodeficiency diseases (PID) or inborn errors of immunity are a group of inherited disorders characterized by defects in components of innate and/or adaptive immunity. Cutaneous manifestations are common in PIDs. The cutaneous manifestations are often the presenting symptoms which help in the diagnosis. Patients with PID are more prone to recurrent, unusual, prolonged or severe infections, and often these infections involve the skin. PID patients may also manifest non-infectious cutaneous signs such as eczema/erythroderma, granulomas, urticaria, vasculitis, and autoimmune skin diseases due to immune dysregulation. Certain PIDs also have specific cutaneous features such as telangiectasia and silvery sheen of hair. Although individual immunodeficiency syndromes are rare, the PIDs as a whole are not uncommon. This review article gives a summary of the common cutaneous manifestations in PID with a focus on the clinical clues for diagnosis.

scholarly journals Practical approach to diagnosis and management of primary immunodeficiency diseases

2018 ◽  
Vol 60 (5) ◽  
pp. 42-49
Author(s):  
T. M. Rossouw ◽  
A. J. Theron ◽  
R. Anderson
Keyword(s):  
Stem Cell ◽  
Primary Immunodeficiency ◽  
Viral Infections ◽  
Haematopoietic Stem Cell ◽  
Primary Immunodeficiency Diseases ◽  
Immunodeficiency Diseases ◽  
The Past ◽  
Current Review ◽  
Immune Mediated ◽  
Life Threatening

The occurrence of primary immunodeficiency diseases (PIDs) is low compared to that of immune-mediated disorders of autoimmune or atopic origin. However, progress in basic and clinical immunology over the past 3–4 decades has facilitated not only improved detection of PIDs, but has also created an awareness of an expanding spectrum of these conditions. Given that those who suffer from the most severe types of PID experience life-threatening microbial and viral infections usually from an early age, prompt recognition and definitive diagnosis enable implementation of appropriate prophylaxis and therapy, and, most importantly, corrective, immunorestoration using allogeneic haematopoietic stem cell transplantation. The purpose of the current review is therefore to alert family physicians to the presentation and types of PID that they may encounter in clinical practice, as well as to immunological screening procedures that can be undertaken to confirm or exclude the existence of the most common types of PID. This is followed by a consideration of prophylactic and therapeutic options and, finally, by a brief overview of gene therapy and gene-editing strategies that may offer alternatives to, or eventually replace, stem cell therapy.

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