Concise Diseases

Chronic Granulomatous Disease (Bridges-Good Syndrome)

Etiology:  genetic mutation in NADPH oxidase gene.

Cells/Organs:  Phagocytic cells such as macrophages

Consequences:  Can’t kill bacteria in phagolysosome.  Chronic/recurring bacterial infections.

Bare Lymphocyte Syndrome (BLS)

Etiology:  genetic mutation in Tap1 or in MHC II gene

Cells/Organs:  APC’s and T cells

Consequences:  APC’s can’t present antigen on MHC and corresponding T cell can’t get activated.  Chronic/recurring infections.

X-Linked Agammaglobulinemia 

(X-LA)

Etiology: genetic mutation in BTK gene

Cells/Organs: B cells

Consequences:  B cells can’t finish rearrangement, so they are stuck as Pre-B cells.   Chronic/recurring infections.  

Rheumatoid Arthritis

Etiology:  auto-reactive Ab’s against joint tissue.  Genetic.

Cells/Organs:  B cells, joints.

Consequences:  Progressive damage of joints.

Autoimmune Hemolytic Anemia

Etiology:  auto-reactive Ab’s against RBC’s, Genetic.

Cells/Organs:  RBC’s.

Consequences:  Loss of RBC’s, Jaundice, exhaustion.

Autoimmune Lymphoproliferative Syndrome 

Previously called Canale-Smith Syndrome (CSS)

Etiology:  Mutation in Fas gene.

Cells/Organs:  WBCs, Platelets

Consequences:  Cells cannot undergo fas-induced apoptosis, so selection of B and T cells doesn’t work right, releasing autoimmune T and B cells.  Causes tissue destruction, cancer, and enlarged spleen & lymph nodes.

Autoimmune polyendocrine syndrome-1 (APS-1)

Etiology: mutations in the AIRE gene

Cells/organs: Thymic medullary epithelial cells (mTECs), T lymphocytes, parathyroid glands, adrenal cortex, gonads, liver, and oral mucosa

Consequences: multi-organ autoimmune destruction, lifelong endocrine failure, acute crisis risk

Addison Disease

Etiology: Autoimmune damage of adrenal glands.  Genetic.

Cells/Organs:  Adrenal glands, Parathyroid.

Consequences:  Hypoparathyroidism, fatigue, Candida infections.

Multiple Sclerosis

Etiology:  Autoimmune neurodegeneration.  Genetic.

Cells/Organs:  Schwann cells that form the myelin sheath on neurons.

Consequences:  Progressive destruction of myelin sheaths.  Paralysis.

DiGeorge Syndrome

Etiology:  Genetic deletion on Chromosome 22.

Cells/Organs:  Thymus, T cells, B cells.

Consequences:  No thymus at birth, no T cells, B cells become anergic.  Recurrent infections.

Graves’ Syndrome

Etiology:  Autoimmune.  Genetic.

Cells/Organs:  Thyroid

Consequences:  Autoimmunity causes Thyroid to be overactive (hyperthyroidism), fatigue.

Leukocyte Adhesion Deficiency (LAD)

Etiology:  Genetic defect in adhesion proteins

Cells/Organs:  WBC’s

Consequences:  WBC’s cannot migrate.  Recurrent infections.

Goodpasture’s syndrome

Etiology:  autoimmune response in tissues.  Genetic.

Cells/Organs:  Lungs and Kidneys

Consequences:  Basement membrane of tissues is damaged.  Renal and respiratory failure.

Interferon Gamma Receptor Immunodeficiency

Etiology:  Genetic defect in IFN-gamma receptor gene.

Cells/Organs:  Macrophages and other WBC’s

Consequences:  Macrophages cannot respond well to start an inflammatory response.  Recurrent infection.

Hashimoto’s Thyroiditis

Etiology:  Auto-antibodies against the Thyroid.

Cells/Organs:  Thyroid 

Consequences:  Hypothyroidism, fatigue, goiter.

Systemic Lupus Erythematosus (SLE)

Etiology:  Auto-antibodies against DNA

Cells/Organs: Many tissues/organs such as skin, joints, kidneys.

Consequences:  Fever, weakness, rashes, kidney dysfunction.

Myasthenia gravis

Etiology:  Auto-antibodies against Acetylcholine receptors 

Cells/Organs:  Motor endplate of muscles

Consequences:  muscle weakness

Acute Myelogenous Leukemia (AML)

Etiology:  Bone marrow cancer of myeloid lineage.

Cells/Organs:  RBCs, macrophages, granulocytes, platelets.

Consequences:  fatigue, cachexia (wasting), bruising/bleeding, immunodeficiency/recurrent infections.

Chronic Lymphocytic Leukemia (CLL)

Etiology:  B cell cancer

Cells/Organs:  B cells

Consequences:  fatigue, cachexia (wasting), immunodeficiency/recurrent infections.

Hodgkin’s Lymphoma

Etiology:  B cell cancer with Reed-Sternberg cells present.

Cells/Organs:  B cells

Consequences:   fatigue, cachexia (wasting), immunodeficiency/recurrent infections.

Hairy-Cell Leukemia

Etiology:  B cell cancer with BRAF mutation

Cells/Organs:  B cells

Consequences:   fatigue, cachexia (wasting), immunodeficiency/recurrent infections

Paroxysmal Nocturnal Hemoglobinuria

Etiology:  Genetic mutation on PIG-A gene which is involved in anchoring proteins to RBC cell membranes.

Cells/Organs:  RBCs, Kidney, Liver

Consequences:  RBC’s are lysed by C’.  The person gets anemia, fatigue, clotting issues.

Wiskott-Aldrich Syndrome (WAS)

Etiology:  X-linked genetic mutation in ‘WASP’ protein (responsible for actin remodeling in order for cells to move around and involved in signaling) 

Cells/Organs:  All hematopoietic cells affected. Poor WBC’s migration.  Low # of platelets.  Platelets mature too fast and release in bone marrow, so they can’t get

Consequences:  bleeding disorder, immunodeficiency, recurrent infections, autoimmunity (cells aren’t moving around during selection process & get missed), leukemia.

Celiac Disease

Etiology: triggered by gluten consumption, HLA-DQ haplotype more at risk (genetic component)

Cells/Organs: Th1 lymphocytes, villi of small intestine

Consequences: cramping, gas, small intestine damage, anemia

Atopic Dermatitis  

(allergic eczema)

Etiology:  hyperactive Th2 cells- overreaction to environmental antigens

Cells/Organs: hyperactive Th2 cells lead to increased levels of IgE and eosinophils unnecessary inflammatory responses

Consequences: itchy and inflamed skin, redness, swelling, cracking, crusting, scaling

Allergic Rhinitis

Etiology: overreaction of allergens- hypersensitivity

Cells/Organs: IgE, mast cells, nose, eyes, T and B cells, granulocytes

Consequences: runny nose, congestion, sneezing, coughing, itchy eyes, sinus pressure; imbalance of Th1 and Th2 cells

Allergy-induced asthma

Etiology: reaction between IgE and mast cells and an allergen causes the sudden release of immunological mediators (histamine, proteases, and cytokines) Type I hypersensitivity

Cells/Organs: IgE, mast cells, B Cells

Consequences: constriction of the airway, pulmonary issues

Crohn’s Disease

Etiology: innate immune system doesn’t properly clear disease

Cells/Organs: GI tract, WBCs

Consequences: chronic inflammation, diarrhea, abdominal pain after eating, fatigue, fever, ulcers, poor nutrient absorption

Primary Mediastinal B cell Lymphoma

Etiology: Unknown cause, genetic mutation leads to unregulated B cell proliferation

Cells/organs: B cells, mediastinum

Consequences: Mass/tumor in mediastinum