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Heme/Lymph 2
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
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
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
Complement Disorders
Early Complement Deficiency
Pyogenic Infections
SLE
Sinus Infections
Terminal Complement Deficiency
Autosomal Recessive
Neisseria Infections
C5-C9
MAC (Membrane Attack Complex)
4 mins
Ataxia Telangiectasia
Pathophysiology
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
Disseminated Intravascular Coagulation (DIC) is a Common Presentation
M5 Gum Infiltration
Responds to Vitamin A
3 mins
Chronic Myelogenous Leukemia (CML)
Pathophysiology
BCR-ABL
9;22 Translocation
Philadelphia Chromosome
Signs & Symptoms
Tyrosine Kinase
Low Alkaline Phosphatase
Splenomegaly
Considerations
Blast Crisis
Age 30 to 90 Years
Responds to Imatinib
3 mins
Acute Lymphoblastic Leukemia (ALL)
Ages < 15
May Present with Bone Marrow Involvement in Children
Mediastinal Mass in Adolescents
TdT Positive
CALLA Positive
t(12;21) Better Prognosis
Spread to CNS and Testes
Most Responsive to Chemotherapy
2 mins
Chronic Lymphocytic Leukemia (CLL)
Signs and Symptoms
Age > 60 Years
B Cell Neoplasm
Smudge Cells
Often Asymptomatic
Cold IgM Autoimmune Hemolytic Anemia
Warm IgG Autoimmune Hemolytic Anemia
Richter's Transformation
3 mins
Hairy Cell Leukemia
Pathophysiology
Mature B Cell Tumor
Signs and Symptoms
Splenomegaly
Diagnosis
Flow Cytometry
Cells Have Filamentous Hair-Like Projections
Stains TRAP Positive
Dry Tap on Bone Marrow Aspiration
Treatment
Cladribine
Pentostatin
2 mins
Leukemia Assessment
Cause
Immature WBCs
Assessment
Recurrent Infections
Easy Bruising
Bleeding
Anemia
Fatigue
Weight Loss
Bone Pain
Considerations
May Have Normal or High WBC Count
2 mins
Leukemia Interventions
Diagnosis
Bone Marrow Aspiration
X-Rays
Interventions
Chemotherapy
Bleeding Precautions
Neutropenic Precautions
Strict Asepsis
Bone Marrow Transplant
Blood Transfusions
Monitor Temperature Elevations
Adequate Nutrition
Imatinib (Gleevec) for Chronic Myelogenous Leukemia (CML)
3 mins
Auer Rods
Azurophilic granular needles in leukemic blasts
Disseminated Intravascular Coagulation (DIC)
Acute Myelogenous Leukemia (AML)
All-trans Retinoic Acid (Vitamin A)
1 min
Burkitt's Lymphoma
Adolescents or young adults
C-myc gene moves next to heavy chain Ig gene
T 8;14
Starry sky appearance
Sheets of lymphocytes with interspersed macrophages
Jaw lesion in endemic (African) form
Pelvis or abdomen in non endemic form (American form)
Associated with EBV
2 mins
Follicular Lymphoma
Derives from Germinal Center
Occurs in adults
T14;18
BCL 2 overexpression
BCL 2 inhibits apoptosis
Indolent
Generalized lymphadenopathy
Bone marrow involvement
2 mins
Mantle Cell Lymphoma
Older Males
Activation of Cyclin D Gene
T 11;14
CD5
Poor Prognosis
55 secs
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