scholarly journals A Review of Primary Immunodeficiency Diseases with Skin Manifestations

2022 ◽  
Author(s):  
Abbas Khalili
Keyword(s):  
Immune System ◽  
Primary Immunodeficiency ◽  
Skin Diseases ◽  
Primary Immunodeficiencies ◽  
Skin Involvement ◽  
Initial Manifestation ◽  
Immunodeficiency Diseases ◽  
Skin Manifestations ◽  
Skin Symptoms ◽  
Immune Deficiencies

Introduction: Primary immunodeficiencies (PID) are rare heterogeneous disorders with defects in which one or more components of the immune system are malfunctioning. Clinical presentations of the patients according to type of immunodeficiency are variable. The majority of these patients are susceptible to infections depending on the type of disorder. In these patients, one of the most important and common symptoms is a skin manifestation that in many cases helps to diagnose the disease. Skin symptoms can include infectious-inflammatory-autoimmune-allergic manifestations and malignancies. In some cases, skin involvement can be the initial manifestation of immunodeficiency diseases, so understanding the relationship between the type of primary immunodeficiency and the type of skin involvement is very important in diagnosing the disease. The majorities of skin diseases are not pathogenomonic in primary immunodeficiencies and may be seen in other diseases with normal levels of immunity. However, there are numerous skin findings that are so characteristic of immunodeficiency diseases that it is necessary to evaluate the immune system. Conclusion: Skin is an organ that may be involved in many diseases, including primary immunodeficiency. Sometimes skin is the first organ involved in immune deficiencies. Therefore, recognizing skin manifestations in these patients is one of the most important factors in early diagnosis of these people.

scholarly journals Primer immunhiány és autoimmun betegségek

2018 ◽  
Vol 159 (23) ◽  
pp. 908-918
Author(s):  
Györgyi Műzes ◽  
Ferenc Sipos
Keyword(s):  
Immune System ◽  
Autoimmune Diseases ◽  
Primary Immunodeficiency ◽  
Adaptive Immune System ◽  
Infectious Complications ◽  
Primary Immunodeficiencies ◽  
Cellular Mechanisms ◽  
Adaptive Immune ◽  
Solid Malignancies ◽  
Autoimmune Phenomena

Abstract: Primary immunodeficiencies consist of a group of genetically heterogeneous immune disorders affecting distinct elements of the innate and adaptive immune system. Patients with primary immunodeficiency are more prone to develop not only recurrent infections, but non-infectious complications, like inflammatory or granulomatous conditions, lymphoproliferative and solid malignancies, autoinflammatory disorders, and a broad spectrum of autoimmune diseases. The concomitant appearance of primary immunodeficiency and autoimmunity appears to be rather paradoxical, therefore making the diagnosis of immunodeficiency patients with autoimmune complications challenging. Mutations of one or more genes playing a fundamental role in immunoregulation and/or immune tolerance network are thought to be responsible for primary immunodeficiencies. The diverse immunological abnomalities along with the compensatory and excessive sustained inflammatory response result in tissue damage and finally in manifestation of organ-, cell-specific or systemic autoimmune diseases. Several forms of primary immunodeficiency disorders are characterized by a variety of specific autoimmune phenomena. This overview addresses the spectrum of autoimmune diseases associated with primary immunodeficiencies, and explores the molecular and cellular mechanisms underlying abnormalities of the immune system. The case presented finally highlights that both the recognition of autoimmune diseases in association with immunodeficiencies and the diagnosis of immunodefiency in those phenotypes with predominant autoimmunity could be challenging. Orv Hetil. 2018; 159(23): 908–918.

Fifteen-minute consultation: Recognising primary immune deficiencies in children

2019 ◽  
Vol 104 (5) ◽  
pp. 235-243
Author(s):  
Per Wekell ◽  
Olof Hertting ◽  
Daniel Holmgren ◽  
Anders Fasth
Keyword(s):  
Clinical Practice ◽  
Clinical Features ◽  
Primary Immunodeficiency ◽  
Primary Immunodeficiencies ◽  
General Paediatrician ◽  
Immune Deficiencies ◽  
Broad Variation ◽  
The Many ◽  
Immunodeficiency Syndromes

Children with primary immunodeficiency syndromes present with broad variation of clinical features and the consequences are often severe if not promptly recognised. Here, support is provided for the general paediatrician to recognise primary immunodeficiencies among the many children they meet in their clinical practice.

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.

Immunodeficiency: Innate, Primary, and Secondary

Asthma ◽  
2014 ◽  
pp. 32-46
Author(s):  
Jean M. Brown ◽  
John W. Sleasman
Keyword(s):  
Adaptive Immunity ◽  
Primary Immunodeficiency ◽  
Clinical Manifestations ◽  
Immune Dysregulation ◽  
Recurrent Infections ◽  
Immunodeficiency Diseases ◽  
Normal Individuals ◽  
Increased Risk ◽  
Pulmonary Manifestations ◽  
Immune Deficiencies

Clinical manifestations of immunodeficiency diseases are recurrent infections with sinopulmonary conditions as the predominant manifestation. Immune deficiencies also result in immune dysregulation, with asthma as a common feature. Many immune deficiencies can lead to chronic pulmonary infections that mimic asthma and remain unrecognized. Immunodeficiency disorders, based on their etiology, are classified as primary or secondary. Primary immunodeficiency diseases are usually due to heritable defects in innate or adaptive immunity resulting in distinct susceptibility to certain types of infections, immune dysregulation, or increased risk for malignancy. Secondary immunodeficiencies are acquired conditions, which occur in otherwise normal individuals and can lead to similar clinical manifestations, that is, chronic sinopulmonary infection. Immune deficiencies are often underdiagnosed and misdiagnosed, especially if pulmonary manifestations are involved.

scholarly journals CUTANEOUS MANIFESTATIONS OF PRIMARY IMMUNODEFICIENCY DISEASES IN TUNISIAN CHILDREN

2018 ◽  
Vol 10 ◽  
pp. e2018065
Author(s):  
Naouel GUIRAT ◽  
Monia Ben Khaled ◽  
Monia Ouederni ◽  
Imen Ben-Mustapha ◽  
Ridha Kouki ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Skin Diseases ◽  
Failure To Thrive ◽  
Primary Immunodeficiency Diseases ◽  
Cutaneous Manifestations ◽  
Cutaneous Infections ◽  
Immunodeficiency Diseases ◽  
Eczematous Dermatitis ◽  
The Common ◽  
A Prospective Study

Abstract. Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of immunodeficiency. This review provides the reader with an up-to-date summary of the common dermatologic manifestations of PIDs among Tunisian children. We conducted a prospective study on two hundred and ninety children with immune deficiency. Demographic details (including age, sex, and consanguinity) with personal and family history were recorded. Special attention was paid to cutaneous manifestations. Dermatological involvements were grouped according to the etiology of their most prominent sign. Cutaneous manifestations were found in 164 patients (56.5%). They revealed the diagnosis of PIDs in 71 patients (24.5 %). The mean age at presentation was 21 months. Overall the most prominent cutaneous alterations were infectious. They accounted for 106 cases (36.55%). The most prevalent causes of cutaneous infections were bacterial: 93 cases (32.06%). Immuno-allergic skin diseases were among the common findings in our study. These include eczematous dermatitis found in 62 cases (21.38%). Malignancy related PIDs was seen in a boy with Wiskott Aldrich syndrome. He developed Kaposi’s sarcoma at the age of 14 months. Cutaneous changes are common among children with PIDs. In pediatric patients with failure to thrive, chronic refractory systemic manifestations often present in other family members, recurrent cutaneous infections unresponsive to adequate therapy, atypical forms of eczematous dermatitis or unusual features should arouse the suspicion of PIDs and prompt specialized immunologic consultation should be made.

Autoimmunity in human primary immunodeficiency diseases

Blood ◽  
2002 ◽  
Vol 99 (8) ◽  
pp. 2694-2702 ◽  
Author(s):  
Peter D. Arkwright ◽  
Mario Abinun ◽  
Andrew J. Cant
Keyword(s):  
Primary Immunodeficiency ◽  
Opportunistic Infections ◽  
Treatment Strategies ◽  
Current Treatment ◽  
Primary Immunodeficiencies ◽  
Primary Immunodeficiency Diseases ◽  
Immunodeficiency Diseases ◽  
Susceptibility To Infection ◽  
Small Subgroup ◽  
Autoimmune Phenomena

Abstract Human primary immunodeficiency diseases are experiments of nature characterized by an increased susceptibility to infection. In many cases, they are also associated with troublesome and sometimes life-threatening autoimmune complications. In the past few years, great strides have been made in understanding the molecular basis of primary immunodeficiencies, and this had led to more focused and successful treatment. This review has 3 aims: (1) to highlight the variety of autoimmune phenomena associated with human primary immunodeficiency diseases; (2) to explore how primary immunodeficiencies predispose patients to autoimmune phenomena triggered by opportunistic infections; and (3) to consider the rationale for the current treatment strategies for autoimmune phenomena, specifically in relation to primary immunodeficiency diseases. Reviewing recent advances in our understanding of the small subgroup of patients with defined causes for their autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases.

New developments in primary immunodeficiencies: Report on the 2006 CIS Primary Immunodeficiency Diseases Consortium Conference, June 1, 2006

2006 ◽  
Vol 121 (3) ◽  
pp. 369-371 ◽  
Author(s):  
Charlotte Cunningham Rundles ◽  
Thomas Fleisher ◽  
Mary Louise Markert ◽  
Jordan Orange ◽  
Hans Ochs ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Primary Immunodeficiencies ◽  
Primary Immunodeficiency Diseases ◽  
New Developments ◽  
Immunodeficiency Diseases
Sign in / Sign up

Export Citation Format

Share Document