{"id":9334,"date":"2021-12-19T00:25:23","date_gmt":"2021-12-18T22:25:23","guid":{"rendered":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/primary-immunodeficiencies-in-the-adults\/"},"modified":"2022-02-10T19:55:02","modified_gmt":"2022-02-10T17:55:02","slug":"primary-immunodeficiencies-in-the-adults","status":"publish","type":"page","link":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/primary-immunodeficiencies-in-the-adults\/","title":{"rendered":"Primary immunodeficiencies in the adults"},"content":{"rendered":"<span class=\"block-heading\" id=\"header_1\">\n<h3 class=\"wp-block-heading\" id=\"introduction\" class=\"wp-block-heading\" id=\"introduction\" class=\"title_collection title1\">Introduction<\/h3>\n<\/span><span class=\"block-content\" id=\"contents_1\">\n\n\n<p class=\"wp-block-paragraph\">There are over 200 types of primary immunodeficiencies, and they can be divided into 5 major groups:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li><strong>Antibody deficiencies (most common)<\/strong><\/li><li><strong>Cellular immunity deficiencies<\/strong><\/li><li><strong>Combined cellular and antibody deficiencies<\/strong><\/li><li><strong>Phagocytotic and neutrophil deficiencies<\/strong><\/li><li><strong>Complement deficiencies<\/strong> <\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">These disorders are diagnosed by the clinical symptoms, along with:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>CBC<\/li><li>Antibody counts, and electrophoresis<\/li><li>Lymphocyte tests (flow-cytometry, TREC test, mitogen and vaccine antigen stimulation assays)<\/li><li>Genetic and chromosomal tests<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_2\">\n<h3 class=\"wp-block-heading\" id=\"antibody-deficiencies\" class=\"wp-block-heading\" id=\"antibody-deficiencies\" class=\"title_collection title1\">Antibody deficiencies<\/h3>\n<\/span><span class=\"block-content\" id=\"contents_2\">\n\n\n<ul class=\"wp-block-list\"><li>Diseases affecting the B-cell lineage, including a complete lack of antibodies (X-linked agammaglobulinemia), reduced number (CVID), absence of a specific type (IgAD), or switching failure (HIgMS).<\/li><li>Characterized by chronic bacterial infections (especially sinopulmonary infections).<\/li><li>Treated by antibiotics (for the infections) and immune globulin replacement therapy (400mg\/kg once a month).<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_3\">\n<h4 class=\"wp-block-heading\" id=\"x-linked-agammaglobulinemia\" class=\"wp-block-heading\" id=\"x-linked-agammaglobulinemia\" class=\"title_collection title2\">X-linked agammaglobulinemia<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_3\">\n\n\n<p class=\"wp-block-paragraph\">X-linked disorder of Buton tyrosine kinase receptor, leading to the failure of B-cell maturation, presenting with a <strong>lack of antibodies<\/strong>.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>In males, the tonsils and lymph nodes are very small.<\/li><li>Early onset (several months after birth).<\/li><li>Risk of viral encephalitis.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_4\">\n<h4 class=\"wp-block-heading\" id=\"common-variable-immunodeficiency-cvid\" class=\"wp-block-heading\" id=\"common-variable-immunodeficiency-cvid\" class=\"title_collection title2\">Common variable immunodeficiency (CVID)<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_4\">\n\n\n<p class=\"wp-block-paragraph\">A group of disorders characterized by a <strong>low amount of antibodies<\/strong> (hypogammaglobulinemia).<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Normal amount of B-cells, but absence of plasma cells.<\/li><li>Late onset (age 20-40).<\/li><li>Patients may develop autoimmune disorders (SLE, pernicious or autoimmune hemolytic anemia).<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_5\">\n<h4 class=\"wp-block-heading\" id=\"selective-iga-deficiency\" class=\"wp-block-heading\" id=\"selective-iga-deficiency\" class=\"title_collection title2\">Selective IgA deficiency<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_5\">\n\n\n<p class=\"wp-block-paragraph\">The most common PID. Lowers mucosal defenses against infections, and may lead to recurrent mucosal infections and diarrhea (although some patients may be asymptomatic).<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Patients may develop autoimmune disorders (SLE, pernicious or autoimmune hemolytic anemia).<\/li><li>Patients may develop anti-IgA antibodies when exposed to blood products.<\/li><li>Treatment by antibiotics and avoiding IgA-containing antibodies.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_6\">\n<h4 class=\"wp-block-heading\" id=\"hyper-igm-syndrome\" class=\"wp-block-heading\" id=\"hyper-igm-syndrome\" class=\"title_collection title2\">Hyper-IgM syndrome<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_6\">\n\n\n<p class=\"wp-block-paragraph\">A disorder of <strong>antibody switching<\/strong>, in which IgM levels are excessively high and IgG levels are low.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Can be X-linked (most cases) or AR.<\/li><li>In most cases, CD40L is absent.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_7\">\n<h3 class=\"wp-block-heading\" id=\"cellular-immunity-deficiencies\" class=\"wp-block-heading\" id=\"cellular-immunity-deficiencies\" class=\"title_collection title1\">Cellular immunity deficiencies<\/h3>\n<\/span><span class=\"block-content\" id=\"contents_7\">\n\n\n<ul class=\"wp-block-list\"><li>Diseases affecting the T and NK-cell lineage, including a failure of their maturation (DiGeorge), or impaired activation (ZAP-70 deficiency).<\/li><li>These patients are predisposed to viral infections and tumors.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_8\">\n<h4 class=\"wp-block-heading\" id=\"digeroge-syndrome\" class=\"wp-block-heading\" id=\"digeroge-syndrome\" class=\"title_collection title2\">DiGeroge syndrome<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_8\">\n\n\n<p class=\"wp-block-paragraph\">DiGeorge results from the failure of the development of the thymus, leading to defective T-cell maturation.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Occurs due to a defect in the development of the 3rd and 4th pharyngeal pouches; can be <strong>complete<\/strong> or <strong>partial<\/strong> (more common).<\/li><li>Appears with other defects such as parathyroid aplasia, cardiac defects, cleft lip and palate, and low-set ears.<\/li><li><strong>Hypocalcemia <\/strong>appears shortly after birth, and is life-threatning, leading to tetany, seizures, and arrthythmias.<\/li><li>Diagnosis based on symptoms, T-cell flow cytometry, parathyroid function tests, and chromosome analysis.<\/li><li>Treatment of complete DiGeroge requires thymic transplantation; calcium supplementation and calcitriol or alfacalcidol.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_9\">\n<h3 class=\"wp-block-heading\" id=\"combined-cellular-and-antibody-deficiencies\" class=\"wp-block-heading\" id=\"combined-cellular-and-antibody-deficiencies\" class=\"title_collection title1\">Combined cellular and antibody deficiencies<\/h3>\n<\/span><span class=\"block-content\" id=\"contents_9\">\n\n\n<ul class=\"wp-block-list\"><li>Diseases affecting both B and T-cell lineages, resulting in the absence of both cell-mediated and humoral-mediated immunity (severe combined immunodeficiency).<\/li><li>This leads to susceptibility of all types of infections (bacterial, viral, fungal). Most patients develop candidiasis, persistant viral infections and diarrhea by the age of 6 months.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_10\">\n<h4 class=\"wp-block-heading\" id=\"severe-combined-immunodeficiency-scid\" class=\"wp-block-heading\" id=\"severe-combined-immunodeficiency-scid\" class=\"title_collection title2\">Severe combined immunodeficiency (SCID)<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_10\">\n\n\n<p class=\"wp-block-paragraph\">SCID is characterized by T, NK-cell, and sometimes B-cell defects.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>SCID can be X-linked (more common) or autosomal recessive.<\/li><li>It may arise from many different genetic mutations, involving <strong>interleukin receptors<\/strong> (X-SCID), or <strong>ADA enzyme<\/strong>, <strong>MHC-II receptors<\/strong> and other components (AR-SCID).<\/li><li>Depending on the mutated gene, patient present with absent T-cent count, and variable B-cell and NK-cell counts.<\/li><li>All of the forms of SCID are fatal without treatment.<\/li><li><strong>Omenn syndrome<\/strong> is an atypical form of AR-SCID, appearing with a variety of cutanous manifestations.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_11\">\n<h3 class=\"wp-block-heading\" id=\"phagocytotic-and-neutrophil-deficiencies\" class=\"wp-block-heading\" id=\"phagocytotic-and-neutrophil-deficiencies\" class=\"title_collection title1\">Phagocytotic and neutrophil deficiencies<\/h3>\n<\/span><span class=\"block-content\" id=\"contents_11\">\n\n\n<p class=\"wp-block-paragraph\">Diseases affecting the number, adhesion, or function of phagocytes.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Patients are susceptible for recurrent bacterial and fungal infections.<\/li><li>Treated by antibiotics and antifungals, INF-gamma, granulocyte transfusions and HSCT.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_12\">\n<h4 class=\"wp-block-heading\" id=\"chronic-granulomatous-disease-cgd\" class=\"wp-block-heading\" id=\"chronic-granulomatous-disease-cgd\" class=\"title_collection title2\">Chronic granulomatous disease (CGD)<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_12\">\n\n\n<p class=\"wp-block-paragraph\">CGD results from inherited defects in the granulocyte oxidase enzyme, resulting in the lack of ROS, leading to defective antimicrobial activity.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Neutrophils are unable to handle the infection; macrophages are recruited and form granulomas.<\/li><li>Aspergillus infections are most often the cause of death.<\/li><\/ul>\n<\/span><div id=\"the_titles\" style=\"display:none;\"><h3 class=\"wp-block-heading\" id=\"introduction\" class=\"wp-block-heading\" id=\"introduction\">Introduction<\/h3><h3 class=\"wp-block-heading\" id=\"antibody-deficiencies\" class=\"wp-block-heading\" id=\"antibody-deficiencies\">Antibody deficiencies<\/h3><h4 class=\"wp-block-heading\" id=\"x-linked-agammaglobulinemia\" class=\"wp-block-heading\" id=\"x-linked-agammaglobulinemia\">X-linked agammaglobulinemia<\/h4><h4 class=\"wp-block-heading\" id=\"common-variable-immunodeficiency-cvid\" class=\"wp-block-heading\" id=\"common-variable-immunodeficiency-cvid\">Common variable immunodeficiency (CVID)<\/h4><h4 class=\"wp-block-heading\" id=\"selective-iga-deficiency\" class=\"wp-block-heading\" id=\"selective-iga-deficiency\">Selective IgA deficiency<\/h4><h4 class=\"wp-block-heading\" id=\"hyper-igm-syndrome\" class=\"wp-block-heading\" id=\"hyper-igm-syndrome\">Hyper-IgM syndrome<\/h4><h3 class=\"wp-block-heading\" id=\"cellular-immunity-deficiencies\" class=\"wp-block-heading\" id=\"cellular-immunity-deficiencies\">Cellular immunity deficiencies<\/h3><h4 class=\"wp-block-heading\" id=\"digeroge-syndrome\" class=\"wp-block-heading\" id=\"digeroge-syndrome\">DiGeroge syndrome<\/h4><h3 class=\"wp-block-heading\" id=\"combined-cellular-and-antibody-deficiencies\" class=\"wp-block-heading\" id=\"combined-cellular-and-antibody-deficiencies\">Combined cellular and antibody deficiencies<\/h3><h4 class=\"wp-block-heading\" id=\"severe-combined-immunodeficiency-scid\" class=\"wp-block-heading\" id=\"severe-combined-immunodeficiency-scid\">Severe combined immunodeficiency (SCID)<\/h4><h3 class=\"wp-block-heading\" id=\"phagocytotic-and-neutrophil-deficiencies\" class=\"wp-block-heading\" id=\"phagocytotic-and-neutrophil-deficiencies\">Phagocytotic and neutrophil deficiencies<\/h3><h4 class=\"wp-block-heading\" id=\"chronic-granulomatous-disease-cgd\" class=\"wp-block-heading\" id=\"chronic-granulomatous-disease-cgd\">Chronic granulomatous disease (CGD)<\/h4><\/div>","protected":false},"excerpt":{"rendered":"<p>Introduction There are over 200 types of primary immunodeficiencies, and they can be divided into 5 major groups: Antibody deficiencies (most common) Cellular immunity deficiencies Combined cellular and antibody deficiencies Phagocytotic and neutrophil deficiencies Complement deficiencies These disorders are diagnosed by the clinical symptoms, along with: CBC Antibody counts, and electrophoresis Lymphocyte tests (flow-cytometry, TREC [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":9306,"menu_order":13,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-9334","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Primary immunodeficiencies in the adults &#8211; Meddists<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/primary-immunodeficiencies-in-the-adults\/\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"3 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/clinical\\\/internal-medicine\\\/immunology\\\/primary-immunodeficiencies-in-the-adults\\\/\",\"url\":\"https:\\\/\\\/meddists.com\\\/learn\\\/clinical\\\/internal-medicine\\\/immunology\\\/primary-immunodeficiencies-in-the-adults\\\/\",\"name\":\"Primary immunodeficiencies in the adults &#8211; Meddists\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/#website\"},\"datePublished\":\"2021-12-18T22:25:23+00:00\",\"dateModified\":\"2022-02-10T17:55:02+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/clinical\\\/internal-medicine\\\/immunology\\\/primary-immunodeficiencies-in-the-adults\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/meddists.com\\\/learn\\\/clinical\\\/internal-medicine\\\/immunology\\\/primary-immunodeficiencies-in-the-adults\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/clinical\\\/internal-medicine\\\/immunology\\\/primary-immunodeficiencies-in-the-adults\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"http:\\\/\\\/meddists.com\\\/learn\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Clinical\",\"item\":\"https:\\\/\\\/meddists.com\\\/learn\\\/clinical\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Internal medicine\",\"item\":\"https:\\\/\\\/meddists.com\\\/learn\\\/clinical\\\/internal-medicine\\\/\"},{\"@type\":\"ListItem\",\"position\":4,\"name\":\"Immunology\",\"item\":\"https:\\\/\\\/meddists.com\\\/learn\\\/clinical\\\/internal-medicine\\\/immunology\\\/\"},{\"@type\":\"ListItem\",\"position\":5,\"name\":\"Primary immunodeficiencies in the adults\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/#website\",\"url\":\"https:\\\/\\\/meddists.com\\\/learn\\\/\",\"name\":\"Meddists\",\"description\":\"Let&#039;s Get Studying\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/meddists.com\\\/learn\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Primary immunodeficiencies in the adults &#8211; Meddists","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/primary-immunodeficiencies-in-the-adults\/","twitter_misc":{"Est. reading time":"3 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/primary-immunodeficiencies-in-the-adults\/","url":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/primary-immunodeficiencies-in-the-adults\/","name":"Primary immunodeficiencies in the adults &#8211; Meddists","isPartOf":{"@id":"https:\/\/meddists.com\/learn\/#website"},"datePublished":"2021-12-18T22:25:23+00:00","dateModified":"2022-02-10T17:55:02+00:00","breadcrumb":{"@id":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/primary-immunodeficiencies-in-the-adults\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/primary-immunodeficiencies-in-the-adults\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/primary-immunodeficiencies-in-the-adults\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"http:\/\/meddists.com\/learn\/"},{"@type":"ListItem","position":2,"name":"Clinical","item":"https:\/\/meddists.com\/learn\/clinical\/"},{"@type":"ListItem","position":3,"name":"Internal medicine","item":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/"},{"@type":"ListItem","position":4,"name":"Immunology","item":"https:\/\/meddists.com\/learn\/clinical\/internal-medicine\/immunology\/"},{"@type":"ListItem","position":5,"name":"Primary immunodeficiencies in the adults"}]},{"@type":"WebSite","@id":"https:\/\/meddists.com\/learn\/#website","url":"https:\/\/meddists.com\/learn\/","name":"Meddists","description":"Let&#039;s Get Studying","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/meddists.com\/learn\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"}]}},"_links":{"self":[{"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages\/9334","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/comments?post=9334"}],"version-history":[{"count":9,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages\/9334\/revisions"}],"predecessor-version":[{"id":10582,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages\/9334\/revisions\/10582"}],"up":[{"embeddable":true,"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/pages\/9306"}],"wp:attachment":[{"href":"https:\/\/meddists.com\/learn\/wp-json\/wp\/v2\/media?parent=9334"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}