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 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.

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 Az elsődleges immunhiány-betegségek bőrmanifesztációi

2018 ◽  
Vol 159 (23) ◽  
pp. 937-947
Author(s):  
Adrienn Erzsébet Bojtor ◽  
Miklós Sárdy ◽  
László Maródi
Keyword(s):  
Early Childhood ◽  
Primary Immunodeficiency ◽  
Fungal Infections ◽  
Genetic Disorders ◽  
Primary Immunodeficiency Diseases ◽  
Cutaneous Manifestations ◽  
Inflammatory Disorders ◽  
Dermatological Diseases ◽  
Immunodeficiency Diseases

Abstract: Primary immunodeficiency diseases (PIDs) are inherited, genetic disorders. The majority of PIDs are diagnosed in infancy or early childhood, but manifestation in adulthood may also occur. Frequent, recurrent and prolonged infections, which respond poorly to treatment may be heralding signs. PID patients may have increased suspectibility to infections, that mostly affect the sino-pulmonary and intestinal tracts and the skin. PIDs are also frequently associated with autoimmune and inflammatory disorders. Cutaneous manifestations affect 40% to 70% of patients with diagnosed PID. Bacterial and fungal infections of the skin, recurrent pyogen abscesses are common complications. Severe atopy, eczema and erythroderma occurring early in childhood should raise awareness of PID. Cutaneous granulomas, pigment changes and dysplasia of skin, hair, and nails can also be seen frequently in some of these conditions. Here we overview the most frequent dermatological diseases occuring in patients with PID. Orv Hetil. 2018; 159(23): 937–947.

scholarly journals Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future

2017 ◽  
Vol 3 (3) ◽  
pp. 19 ◽  
Author(s):  
Jovanka King ◽  
Jonas Ludvigsson ◽  
Lennart Hammarström
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
Primary Immunodeficiency ◽  
Severe Combined Immunodeficiency ◽  
Genomic Medicine ◽  
Primary Immunodeficiency Diseases ◽  
Inborn Errors ◽  
Immunodeficiency Diseases ◽  
Molecular Abnormalities ◽  
Wide Range

Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to rise. Newborn screening for PID has been established in many countries, with the majority of centers using a PCR-based T cell receptor excision circle (TREC) assay to screen for severe combined immunodeficiency (SCID) and other forms of T cell lymphopenia. Multiplexed screening including quantitation of kappa-recombining exclusion circles (KREC) has also been described, offering advantages over TREC screening alone. Screening technologies are also expanding to include protein-based assays to identify complement deficiencies and granulocyte disorders. Given the rapid advances in genomic medicine, a potential future direction is the application of next-generation sequencing (NGS) technologies to screen infants for a panel of genetic mutations, which would enable identification of a wide range of diseases. However, several ethical and economic issues must be considered before moving towards this screening strategy.

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