Notes in 02_Primary Immunodeficiency

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Published	02/10/2024	{{c1::Primary Immune Deficiency}} is an {{c2::intrinsic congenital defect in the immune system that involves missing enzyme, or cell types, non-functi…
Published	02/10/2024	Causes of Primary Immune Deficiency (Disorder of {{c2::Adaptive Immunity}}) {{c1::Common Variable Immunodeficiency (CVID)}} {{c1::X-Lin…
Published	02/10/2024	Causes of Primary Immune Deficiency (Disorder of {{c2::Innate Immunity}}) {{c1::Phagocyte defects e.g. Chronic Granulomatous Disease}} {{c1::Complemen…
Published	02/10/2024	Causes of Primary Immune Deficiency (Disorder of {{c2::Immune Dysregulation}}) {{c1::Autoimmune Lymphoproliferative Syndrome (ALPS)}} {{c1::Immun…
Published	02/10/2024	{{c1::Secondary Immune Deficiency}} is a {{c2::defect in the immune system secondary to a known condition, toxins, or drugs}}
Published	02/10/2024	Causes of Secondary Immune Deficiency {{c1::Lymphoid malignancy}} {{c1::Infection e.g. HIV}} {{c1::Malnutrition}} {{c1::Immunosuppressive Drugs}}
Published	02/10/2024	{{c1::X-Linked Agammaglobulinaemia (Bruton’s Disease)}} is a primary immune deficiency of {{c2::Bruton’s tyrosine kinase (Btk) enzyme}} leading to rec…
Published	02/10/2024	{{c1::Common Variable Immunodeficiency (CVID)}} is a group of primary immune deficiency disorders that present with {{c2::Very low levels of IgG and I…
Published	02/10/2024	{{c1::Selective IgA Deficiency}} is a primary immune deficiency of {{c2::IgA}} with normal levels of {{c2::IgG}} and {{c2::IgM}}
Published	02/10/2024	Investigations of {{c2::X-Linked Agammaglobulinaemia (Bruton’s Disease)}} {{c1::Absence of circulating mature B lymphocytes}}{{c1::Very low serum leve…
Published	02/10/2024	Investigations of {{c2::Common Variable Immunodeficiency (CVID)}} {{c1::Very low levels of IgG and IgA}} {{c1::Normal or reduced IgM}} {{c1::Low to no…
Published	02/10/2024	Investigations of {{c2::Selective IgA Deficiency}} {{c1::Undetectable or very low serum IgA levels}} {{c1::Normal concentration of IgG & IgM and n…
Published	02/10/2024	{{c1::Hyper-IgM Syndrome}} is a primary immune deficiency of {{c2::CD40 Ligands of T-cells which usually reacts with CD40 on B-cells to trigger switch…
Published	02/10/2024	Features of {{c2::Hyper-IgM Syndrome}} {{c1::Enlarged lymph nodes and spleen (Accumulation of immature B cells)}} {{c1::Lack of memory B-cells}} {{c1:…
Published	02/10/2024	{{c1::Severe Combined Immune Deficiency (SCID)}} is an immune disorder {{c2::due to deficiency and failure of T or B lymphocyte function or both, with…
Published	02/10/2024	Presentation of {{c2::Severe Combined Immune Deficiency (SCID)}} {{c1::Onset in first few weeks of life}} {{c1::Failure to thrive}} {{c1::Persistent i…
Published	02/10/2024	Investigations of {{c2::Severe Combined Immune Deficiency (SCID)}} show {{c1::Lymphopenia (Low lymphocyte count)}}
Published	02/10/2024	{{c1::Wiskott-Aldrich Syndrome}} is an {{c2::X-linked recessive condition with mutation in WAS gene which affects TCR formation resulting in an inabil…
Published	02/10/2024	Presentation of {{c2::Wiskott-Aldrich Syndrome}}WATER {{c1::Wiskott}} {{c1::Aldrich}} {{c1::Thrombocytopenia}} {{c1::Eczema}} {{c1::Recurrent (pyogeni…
Published	02/10/2024	{{c1::Ataxia Telangiectasia (Louis-Bar Syndrome)}} is an {{c2::autosomal recessive disorder with deleterious mutations in ATM gene involved in protect…
Published	02/10/2024	Presentation of {{c2::Ataxia Telangiectasia (Louis-Bar Syndrome)}} {{c1::Telangiectasia}} {{c1::Cerebellar ataxia}} {{c1::Predisposition to cancer}}
Published	02/10/2024	Investigations of Ataxia Telangiectasia show {{c1::high level of alpha-feto protein}}
Published	02/10/2024	{{c1::Thymic Aplasia (DiGeorge Syndrome)}} is an {{c2::autosomal dominant disorder involving 22q11 microdeletion which leads to failure to develop 3rd…
Published	02/10/2024	Presentation of {{c2::DiGeorge Syndrome}} {{c1::Cardiac defect (Tetralogy of Fallot, Ventricular septal defect (VSD), Common Arterial Trunk)}} {{c1::A…
Published	02/10/2024	{{c1::IL-1 Receptor Associated Kinase (IRAK-4) Deficiency}} is a {{c2::disorder specifically associated with defects affecting the response to Toll-Li…
Published	02/10/2024	{{c1::Chronic Granulomatosis Disease (CGD)}} is {{c2::failure to produce high concentration of highly toxic reactive oxygen species (ROS) during the r…
Published	02/10/2024	Presentation of C1 Esterase Inhibitor Deficiency {{c1::Most Common Inherited Deficiency}} {{c1::Hereditary Angioedema}}
Published	02/10/2024	Presentation of {{c2::AIRE Mutation}} {{c1::Mucocutaneous candidiasis (Thrush)}} {{c1::Autoimmune Endocrinopathy}}
Published	02/10/2024	Management of X-Linked Agammaglobulinaemia{{c1::High levels of replacement immunoglobulin to prevent bronchiectasis}}
Published	02/10/2024	Management of Ataxia Telangiectasia {{c1::IV Immunoglobulin (IVIG)}} {{c1::Antibiotics}}
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