Darcy Shared "Primary Immunodeficiencies" - 11 Picmonics

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Primary Immunodeficiencies

Bruton (X-linked) Agammaglobulinemia (DEMO)
X-linked Recessive
Blocks B Cell Maturation
Decreased Immunoglobulins of all Classes
Recurrent Bacterial Infections after 6 Months
1 min
Common Variable Immunodeficiency
Defect in B Cell Maturation
Decreased plasma cells
Decreased immunoglobulins
Signs & Symptoms
Sinopulmonary infections
Increased Risk of Autoimmune Disease
1 min
Hyper IgM Syndrome
Deficient CD40 Ligand on Helper T-cells
Defective CD40 Receptor on B-cells
Inability to Class Switch
Signs and Symptoms
Pyogenic Abscess
Decreased IgG, IgA, IgE
4 mins
Selective IgA Deficiency
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
Anaphylaxis From IgA Containing Blood Products
2 mins
Thymic Aplasia (DiGeorge Syndrome)
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
Aortic Defects
Congenital Heart Defects
Absent Thymic Shadow on CXR
2 mins
Severe Combined Immunodeficiency (SCID)
Both B and T Cell Deficiency
Recurrent Viral, Bacterial, Fungal, Protozoal Infections
Defective Interleukin (IL) 2 Receptor
Adenosine Deaminase Deficiency
Failure to Synthesize MHC II Antigens
Treat with Bone Marrow Transplant
2 mins
Ataxia Telangiectasia
Autosomal Recessive
ATM Gene
Defect in DNA repair
Signs & Symptoms
Cerebellar defects
Spider Angiomas
Sensitive to Radiation
Defective Tumor Suppressor Gene
Increased risk of Cancer, Leukemias, and Lymphomas
Increased AFP levels
IgA deficiency
Repeated sinopulmonary infections
2 mins
Wiskott Aldrich
X-linked Recessive
WASp Protein Mutation
Antigen Presentation Defect
Progressive Deletion of B and T Cells
Signs and Symptoms
Decreased IgM
Increased IgE, IgA
2 mins
Chronic Granulomatous Disease
Most Commonly X-linked Recessive
Defective NADPH Oxidase (Enzyme Complex)
Decreased Hydrogen Peroxide
Impaired Intracellular Killing in Phagocytes
Signs and Symptoms
Recurrent Purulent Skin and Lung Infections
Catalase Positive Organisms
Negative Nitroblue Tetrazolium Test
DHR (Dihydrorhodamine) Flow Cytometry
Antimicrobial Prophylaxis
3 mins
Chediak-Higashi Syndrome
Autosomal Recessive
Defective Lysosomal Trafficking Regulator Gene (LYST)
Defect In Microtubular Function
Decrease In Phagocytosis
Signs And Symptoms
Recurrent Pyogenic Infections
Staph Aureus And Streptococci
Partial Albinism
Peripheral Neuropathy
Giant Granules In Granulocytes And Platelets
2 mins
Leukocyte Adhesion Deficiency
Autosomal Recessive
Integrin CD18 Protein
Defect in LFA-1
Attached to ICAM
Signs and Symptoms
Bacterial Infections
Delayed Separation of Umbilical Cord
2 mins

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