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Increased risk of Cancer, Leukemias, and Lymphomas
Increased AFP levels
IgA deficiency
Repeated sinopulmonary infections
2 mins
Wiskott Aldrich
Pathophysiology
X-linked Recessive
WASp Protein Mutation
Antigen Presentation Defect
Progressive Deletion of B and T Cells
Signs and Symptoms
Thrombocytopenia
Eczema
Infections
Decreased IgM
Increased IgE, IgA
2 mins
Bruton's Agammaglobulinemia
Pathophysiology
X-linked Recessive
Defective Bruton Tyrosine Kinase
Blocks B Cell Maturation
Signs & Symptoms
Decreased Immunoglobulins of All Classes
Bacterial Infections After Six Months
Maternal IgG Protects Before Six Months
2 mins
Common Variable Immunodeficiency
Pathophysiology
Defect in B Cell Maturation
Decreased Plasma Cells
Decreased Immunoglobulins
Signs & Symptoms
Sinopulmonary Infections
Increased Risk of Autoimmune Disease
Lymphoma
1 min
Selective IgA Deficiency
Pathophysiology
Defect in Class Switching
Decreased IgA
Signs and Symptoms
Often Asymptomatic
Increase in Atopic & Autoimmune Diseases
Sinopulmonary Infections
Increased Risk Giardia Lamblia Infections
Inflammatory Bowel Disease
Celiac Disease
Considerations
Anaphylaxis From IgA Containing Blood Products
2 mins
Leukocyte Adhesion Deficiency
Pathophysiology
Autosomal Recessive
Integrin CD18 Protein
Defect in LFA-1
Attached to ICAM
Signs and Symptoms
Neutrophilia
Bacterial Infections
Non-Pyogenic
Delayed Separation of Umbilical Cord
2 mins
IL-12 Receptor Deficiency
Pathophysiology
IL-12 Secreted by Macrophages
Decreased Th1 Response
Decreased IFN Gamma
Signs and Symptoms
Mycobacterial Infections
Salmonella
1 min
Chronic Mucocutaneous Candidiasis
Mechanism and Characteristics
T Cell Dysfunction
Candida Albicans
Signs and Symptoms
Infections of Skin
Infections of Mucous Membrane
Susceptible to HPV Infections like Condyloma Acuminatum
42 secs
Thymic Aplasia (DiGeorge Syndrome)
Pathophysiology
DiGeorge Syndrome
22q11 Deletion
Failure to Develop Third and Fourth Pharyngeal Pouches
Signs and Symptoms
Undeveloped Thymus
T Cell Deficiency
Recurrent Viral and Fungal Infections
Undeveloped Parathyroids
Hypocalcemia
Tetany
Aortic Defects
Congenital Heart Defects
Diagnosis
Absent Thymic Shadow on CXR
2 mins
Hyper IgE Syndrome
Pathophysiology
Job's Syndrome
Abnormal Chemotaxis
Decreased IFN Gamma
Signs and Symptoms
Leonine Facies
Cold Non-Inflamed Staph Aureus Abscesses
Retained Primary Teeth
Eczema
Red Hair
1 min
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