Primary Immune Deficiencies
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Primary Immune Deficiencies conditions
Ataxia-TelangiectasiaAtaxia-Telangiectasia is a rare genetic disorder causing progressive cerebellar ataxia and telangiectasias, linked to ATM gene mutations affecting DNA repair.Autosomal Dominant Hyper-IgE Syndrome (Job Syndrome)Autosomal Dominant Hyper-IgE Syndrome, or Job Syndrome, is characterized by elevated IgE levels and recurrent Staphylococcal skin infections due to STAT3 mutations.Chédiak-Higashi SyndromeChédiak-Higashi Syndrome is a rare genetic disorder causing defective lysosomal trafficking, leading to immunodeficiency, albinism, and recurrent infections.Chronic Granulomatous Disease (CGD)Chronic Granulomatous Disease (CGD) is a genetic disorder causing defective NADPH oxidase, leading to recurrent infections with catalase-positive bacteria and fungi.Chronic Mucocutaneous CandidiasisChronic mucocutaneous candidiasis is a persistent fungal infection caused by impaired T-cell immunity, leading to recurrent Candida albicans infections of skin and mucosa.Common Variable Immunodeficiency (CVID)Common Variable Immunodeficiency (CVID) is a primary immunodeficiency marked by low immunoglobulins and recurrent bacterial infections, often diagnosed in adulthood.DiGeorge Syndrome (22q11.2 Deletion Syndrome)DiGeorge Syndrome (22q11.2 Deletion Syndrome) is a genetic disorder causing thymic hypoplasia, leading to immunodeficiency and congenital heart defects.Hyper-IgM SyndromeHyper-IgM Syndrome is a primary immunodeficiency caused by defective class switching, leading to low IgG and IgA with normal or elevated IgM and recurrent infections.IL-12 Receptor DeficiencyIL-12 receptor deficiency impairs IFN-gamma signaling, leading to susceptibility to mycobacterial and Salmonella infections due to defective Th1 responses.Leukocyte Adhesion Deficiency (Type 1)Leukocyte Adhesion Deficiency Type 1 is a rare immunodeficiency caused by defective integrin expression, leading to impaired neutrophil migration and recurrent infections.Selective IgA DeficiencySelective IgA deficiency is the most common primary immunodeficiency characterized by low serum and mucosal IgA, leading to recurrent respiratory and GI infections.Severe Combined Immunodeficiency (SCID) - Adenosine Deaminase (ADA) DeficiencyAdenosine deaminase deficiency causes SCID by toxic metabolite buildup leading to impaired lymphocyte development and severe immunodeficiency in infants.Severe Combined Immunodeficiency (SCID) - IL-2R γ-Chain DefectSevere Combined Immunodeficiency IL-2R γ-Chain Defect is a genetic disorder causing defective T and NK cell development, leading to severe infections and immune failure.Severe Combined Immunodeficiency (SCID) - RAG Gene DefectSevere Combined Immunodeficiency SCID with RAG gene defect causes impaired lymphocyte development leading to profound T and B cell deficiency and severe infections early in life.Wiskott-Aldrich SyndromeWiskott-Aldrich Syndrome is a rare X-linked immunodeficiency causing eczema, thrombocytopenia, and recurrent infections due to defective WAS protein affecting immune cells.X-linked (Bruton) AgammaglobulinemiaX-linked Bruton agammaglobulinemia is a primary immunodeficiency caused by BTK gene mutations leading to absent B cells and recurrent bacterial infections.