Primary immunodeficiency states
Disclosures
- updated 15 Jul 2022:
Nothing to disclose
Updates to Article Attributes
Body
was changed:
The primary immunodeficiency states are a heterogenous group of disorders that occur when there is an impairment of humoral or cell-mediated immunity in the absence of any recognised precipitating cause such as drug therapy or infective agent such as human immunodeficiency virus (HIV).
Epidemiology
The majority are diagnosed in children under the age of one, although milder forms may not be recognised until adulthood.
Classification
They are broadly classified as disorders of adaptive immunity (i.e. T-cell, B-cell or combined immunodeficiencies) or of innate immunity (i.e. phagocyte and complement disorders). Over 260 conditions may exist 3.
Only some of the more recognised ones are listed below.
Disorders of adaptive immunity
T-cell (cellular) immunodeficiency
- IFN-γ/IL-12
- AIRE mutations
- chronic mucocutaneous candidiasis
- selective T-cell functional defects
B-cell (antibody-mediated) immunodeficiency
- common variable immunodeficiency
- specific antibody deficiency
- IgG subclass deficiency
- common variable hypogammaglobulinemia
-
IgA deficiency - considered most common 2
- selective IgA deficiency
- X-linked hypogammaglobulinemia
- panhypogammaglobulinemia (ring 18 chromosome)
Combined immunodeficiency
- Wiskott-Aldrich syndrome
- ataxia telangiectasia
- DiGeorge syndrome
- SCID (severe combined)
- T- , B+
- γc deficiency
- JAK3 deficiency
- T- , B-
- ADA deficiency
- RAG 1/2 deficiency
Disorders of innate immunity
Phagocyte defects
Complement defects
- deficiency in early complement pathway components (C1q, C1r, C2, C4)
- deficiency in late complement pathway components (C5, C6, C7, C8, C9)
- C3 and regulatory components
Others
-<p>The<strong> primary immunodeficiency states</strong> are a heterogenous group of disorders that occur when there is an impairment of humoral or cell-mediated immunity in the absence of any recognised precipitating cause such as drug therapy or infective agent such as <a href="/articles/hivaids">human immunodeficiency virus (HIV)</a>.</p><h4>Epidemiology</h4><p>The majority are diagnosed in children under the age of one, although milder forms may not be recognised until adulthood. </p><h4>Classification</h4><p>They are broadly classified as disorders of adaptive immunity (i.e. T-cell, B-cell or combined immunodeficiencies) or of innate immunity (i.e. phagocyte and complement disorders). Over 260 conditions may exist<sup> 3</sup>.</p><p>Only some of the more recognised ones are listed below. </p><h5>Disorders of adaptive immunity</h5><h6>T-cell (cellular) immunodeficiency</h6><ul>-<li>IFN-γ/IL-12</li>-<li>AIRE mutations</li>-<li><a href="/articles/chronic-mucocutaneous-candidiasis">chronic mucocutaneous candidiasis</a></li>-<li><a href="/articles/selective-t-cell-functional-defects">selective T-cell functional defects</a></li>-</ul><h6>B-cell (antibody-mediated) immunodeficiency</h6><ul>-<li><a href="/articles/common-variable-immunodeficiency">common variable immunodeficiency</a></li>-<li>specific antibody deficiency</li>-<li>IgG subclass deficiency<ul><li><a href="/articles/selective-igg-deficiency">selective IgG deficiency</a></li></ul>-</li>-<li><a href="/articles/common-variable-hypogammaglobulinemia">common variable hypogammaglobulinemia</a></li>-<li>-<a href="/articles/iga-deficiency">IgA deficiency</a> - considered most common <sup>2</sup><ul><li>selective IgA deficiency</li></ul>-</li>-<li><a href="/articles/x-linked-hypogammaglobulinemia">X-linked hypogammaglobulinemia</a></li>-<li>-<a href="/articles/panhypogammaglobulinemia">panhypogammaglobulinemia</a> (ring 18 chromosome)</li>-</ul><h6>Combined immunodeficiency</h6><ul>-<li><a href="/articles/wiskott-aldrich-syndrome-2">Wiskott-Aldrich syndrome</a></li>-<li><a href="/articles/ataxia-telangiectasia">ataxia telangiectasia</a></li>-<li><a href="/articles/22q112-deletion-syndrome-1">DiGeorge syndrome</a></li>-<li><a href="/articles/severe-combined-immunodeficiency-disorder-scid">SCID (severe combined)</a></li>-<li>T- , B+<ul>-<li>γc deficiency</li>-<li>JAK3 deficiency</li>-</ul>-</li>-<li>T- , B-<ul>-<li>ADA deficiency</li>-<li>RAG 1/2 deficiency</li>-</ul>-</li>-</ul><h5>Disorders of innate immunity</h5><h6>Phagocyte defects</h6><ul>-<li><a href="/articles/chronic-granulomatous-disease">chronic granulomatous disease</a></li>-<li><a href="/articles/hyperimmunoglobulin-ige-syndrome">hyper IgE syndrome</a></li>-<li><a href="/articles/leukocyte-adhesion-deficiency">leucocyte adhesion deficiency </a></li>-</ul><h6>Complement defects</h6><ul>-<li>deficiency in early complement pathway components (C1q, C1r, C2, C4)</li>-<li>deficiency in late complement pathway components (C5, C6, C7, C8, C9) </li>-<li>C3 and regulatory components</li>- +<p>The<strong> primary immunodeficiency states</strong> are a heterogenous group of disorders that occur when there is an impairment of humoral or cell-mediated immunity in the absence of any recognised precipitating cause such as drug therapy or infective agent such as <a href="/articles/hivaids">human immunodeficiency virus (HIV)</a>.</p><h4>Epidemiology</h4><p>The majority are diagnosed in children under the age of one, although milder forms may not be recognised until adulthood. </p><h4>Classification</h4><p>They are broadly classified as disorders of adaptive immunity (i.e. T-cell, B-cell or combined immunodeficiencies) or of innate immunity (i.e. phagocyte and complement disorders). Over 260 conditions may exist<sup> 3</sup>.</p><p>Only some of the more recognised ones are listed below. </p><h5>Disorders of adaptive immunity</h5><h6>T-cell (cellular) immunodeficiency</h6><ul>
- +<li>IFN-γ/IL-12</li>
- +<li>AIRE mutations</li>
- +<li><a href="/articles/chronic-mucocutaneous-candidiasis">chronic mucocutaneous candidiasis</a></li>
- +<li><a href="/articles/selective-t-cell-functional-defects">selective T-cell functional defects</a></li>
- +</ul><h6>B-cell (antibody-mediated) immunodeficiency</h6><ul>
- +<li><a href="/articles/common-variable-immunodeficiency">common variable immunodeficiency</a></li>
- +<li>specific antibody deficiency</li>
- +<li>IgG subclass deficiency<ul><li><a href="/articles/selective-igg-deficiency">selective IgG deficiency</a></li></ul>
- +</li>
- +<li><a href="/articles/common-variable-hypogammaglobulinemia">common variable hypogammaglobulinemia</a></li>
- +<li>
- +<a href="/articles/iga-deficiency">IgA deficiency</a> - considered most common <sup>2</sup><ul><li>selective IgA deficiency</li></ul>
- +</li>
- +<li><a href="/articles/x-linked-hypogammaglobulinemia">X-linked hypogammaglobulinemia</a></li>
- +<li>
- +<a href="/articles/panhypogammaglobulinemia">panhypogammaglobulinemia</a> (ring 18 chromosome)</li>
- +</ul><h6>Combined immunodeficiency</h6><ul>
- +<li><a href="/articles/wiskott-aldrich-syndrome-2">Wiskott-Aldrich syndrome</a></li>
- +<li><a href="/articles/ataxia-telangiectasia">ataxia telangiectasia</a></li>
- +<li><a href="/articles/22q112-deletion-syndrome-1">DiGeorge syndrome</a></li>
- +<li><a href="/articles/severe-combined-immunodeficiency-disorder-scid">SCID (severe combined)</a></li>
- +<li>T- , B+<ul>
- +<li>γc deficiency</li>
- +<li>JAK3 deficiency</li>
- +</ul>
- +</li>
- +<li>T- , B-<ul>
- +<li>ADA deficiency</li>
- +<li>RAG 1/2 deficiency</li>
- +</ul>
- +</li>
- +</ul><h5>Disorders of innate immunity</h5><h6>Phagocyte defects</h6><ul>
- +<li><a href="/articles/chronic-granulomatous-disease">chronic granulomatous disease</a></li>
- +<li><a href="/articles/hyperimmunoglobulin-ige-syndrome">hyper IgE syndrome</a></li>
- +<li><a href="/articles/leukocyte-adhesion-deficiency">leucocyte adhesion deficiency </a></li>
- +</ul><h6>Complement defects</h6><ul>
- +<li>deficiency in early complement pathway components (C1q, C1r, C2, C4)</li>
- +<li>deficiency in late complement pathway components (C5, C6, C7, C8, C9) </li>
- +<li>C3 and regulatory components</li>
Images Changes:
Image 1 X-ray (Frontal) ( update )
Caption
was changed:
Case 1: SCID with pneumonia
Unable to process the form. Check for errors and try again.