Heme-Immuno review

1. Immunodeficiencies

B-cell disorders
Bruton (X-linked) Agammaglobulinemia
Selctive IgA Deficiency
Common Variable Immunodeficiency (CVID)

T-Cell Disorders
Thymic Aplasia (DiGeorge Syndrome)
Hyper IgE syndrome (Job’s syndrome)
IL-12 receptor deficiency
Chronic Mucotaneous Candidiasis

B and T Cell Disorders
Severe Combined Immunodeficiency (SCID), Adenosine Deaminase Deficiency
Hyper M Syndrome
Wiskott-Aldrich Syndrome

Phagocyte Dysfunction
Leukocyte Adhesion Dysfunction (type 1)
Chronic Granulomatous Disease

2. Lupus

Immunoglobulins (anti-dsDNA, anti-Sm, antiphospholipid)
Malar rash
Discoid rash
Antinuclear antibody
Mucositis (oropharyngeal ulcers)
Neurologic disorders
Serositis (pleuritis, pericarditis)
Hematologic disorders
Renal disorders

90% female, 14-45 yrs, most common, severe in black females, Liebman-Sacks endocarditis (verucous, wart-like, sterile vegitations on both sides of valve), hilar adenopathy, Raynauds’s phenomenon, nephritis common cause of death, diffuse proliferative glomerulonephritis (if nephritic); membranous glomerulonephritis (if nephrotic).

False positives on syphilis tests (RPR/VDRL) due to antiphospholipid antibodies, which cross-react with cardiolipin used in tests. Lab tests detect presence of:
Antinuclear antibodies (ANA), sensitive (primary screening) but not specific for SLE
Antibodies due to double-stranded DNA (anti-dsDNA) – very specific, poor prognosis
Anti-Smith antibodies (anti-Sm), very specific, but not very prognostic
Antihistone antibodies, more sensitive for drug-induced lupus.

3. Leukemias
Chronic Myelogenous Leukemia (CML)
Acute Myelogenous leukemia (AML)
Chronic Lymphocytic Leukemia (CLL)
Acute Lymphoblastic Leukemia (ALL)
Hairy Cell Leukemia

4. Lymphomas
Nodular Sclerosing
Mixed Cellularity
Lymphocyte Predominant
Lymphocyte Depleted
Lymphocyte Rich
Diffuse Large B Cell
Mantle Cell
Maginal Zone MALT
Adult T-Cell

5. Anemias

Echinocytes (Burr Cells)
Iron-Deficiency (decreased response to erythropoietin)
Vitamin B-12 (Cobalamin) Deficiency (decreased response to erythropoietin)
Folate Deficiency (decreased response to erythropoietin)
Anemia of Chronic Disease (decreased response to erythropoietin)
Vitamin E
Sickle Cell (destruction of red blood cells)
Aplastic Anemia (destruction of red blood cells)
Hemolytic Anemia (destruction of red blood cells)
– Hereditary Spherocytosis
– Glucose-6-Phosphate Dehydrogenase Deficiency
– Thromobotic Thrombocytopenic Purpura (TTP)
– Hemolytic Uremic Syndrome
– Autoimmune Hemolytic Anemia
— Warm-Antibody
— Cold Agglutinin Disease
circulating antibodies, usually IgM, directed against red blood cells
Thalassemias alpha, beta (decreased marrow response)

6. Hemostasis and Thrombosis, Coagulation Cascade, Bleeding Disorders

Microcytic, hypochromic (MCV < 80fL) anemia
Iron Deficiency
Lead poisoning

Macrocytic, (MCV > 100fL) anemia
Folate Deficiency
B-12 Deficiency
Orotic Aciduria

Nonhemolytic Normocytic anemia
Anemia of Chronic Disease (ACD)
Aplastic Anemia
Chronic Kidney Disease

Intrinsic Hemolytic Normocytic anemia
Hereditary Spherocytosis
G6PD Deficiency
Pyruvate Kinase Deficiency
HbC Defect
Paroxysmal Nocturnal Hemoglobulinuia
Sickle Cell Anemia

Extrinsic Hemolytic Normocytic anemia
Autoimmune Hemolytic anemia

Platelet Disorders
Bernard-Soulier Syndrome
Glanzmann’s thrombasthenia
Idiopathic Thrombocytopenia Purpura (ITP)
Thrombocytic Thrombocytopenic Purpura

Coagulation Disorders
Hemophilia A or B
Vitamin K Deficiency

Mixed platelet and coagulation disorders
von Willebrand’s Disease

Hereditary Thrombosis Syndromes leading to Hypercoagulability
Factor V Leiden
Antithrombin III Deficiency
Protein C or S Deficiency

Heparin Induced Thrombocytopenia (HIT)
Henoch-Schonlein Purpura
Homeostasis (primary, secondary, tertiary)
Constriction of vessels (Local smooth muscle contractile response, Thromboxane A2 release from endothelium)

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