Pathoma Exam: Questions With Solutions (Graded A+)
DiGeorge Syndrome Right Ans - Developmental failure of the 3rd and 4th
pharyngeal pouches
Severe Combined Immunodeficiency (SCID) Right Ans - Defective cell-
mediated and humoral immunity
X-Linked Agammaglobulinemia Right Ans - Complete lack of
immunoglobulin due to disordered B-cell maturation
Common Variable Immunodeficiency (CVID) Right Ans - Low
immunoglobulin due to B-cell or helper T-cell defects
IgA Deficiency Right Ans - Low serum and mucosal IgA
Hyper-IgM Syndrome Right Ans - Characterized by elevated IgM
Wiskott-Aldrich Syndrome Right Ans - Characterized by
thrombocytopenia, eczema, and recurrent infections (defective humoral and
cellular immunity)
Systemic Lupus Erythematosus (SLE) Right Ans - Systemic autoimmune
disease
Sjogren Syndrome Right Ans - Autoimmune destruction of lacrimal and
salivary glands
Scleroderma Right Ans - Autoimmune tissue damage with activation of
fibroblasts and deposition of collagen (fibrosis)
Mixed Connective Tissue Disease Right Ans - Autoimmune-mediated tissue
damage with mixed features of SLE, systemic sclerosis, and polymyositis
Immune Thrombocytopenic Purpura (ITP) Right Ans - Autoimmune
production of IgG against platelet antigens
Microangiopathic Hemolytic Anemia Right Ans - Pathologic formation of
platelet microthrombi in small vessels
,Bernard-Soulier Syndrome Right Ans - Due to a genetic GPIb deficiency;
platelet adhesion is impaired
Glanzmann Thrombasthenia Right Ans - Due to a genetic GPIIb/IIIa
deficiency; platelet aggregation is impaired
Hemophilia A Right Ans - Genetic factor VIII deficiency
Hemophilia B (Christmas Disease) Right Ans - Genetic factor IX deficiency
Coagulation Factor Inhibitor Right Ans - Acquired antibody against a
coagulation factor resulting in impaired factor function
Von Willebrand Disease Right Ans - Genetic vWF deficiency
Heparin-Induced Thrombocytopenia Right Ans - Platelet destruction that
arises secondary to heparin therapy
Disseminated Intravascular Coagulation (DIC) Right Ans - Pathologic
activation of the coagulation cascade
Anemia Right Ans - Disruption in circulating red blood cell (RBC) mass
Anemia of Chronic Disease Right Ans - Anemia associated with chronic
inflammation or cancer
Iron Deficiency Anemia Right Ans - Anemia due to decreased levels of iron
Sideroblastic Anemia Right Ans - Anemia due to defective protoporphyrin
synthesis
Thalassemia Right Ans - Anemia due to decreased synthesis of the globin
chains of hemoglobin
Megaloblastic Anemia Right Ans - Anemia due to folate or vitamin B12
deficiency
, Hereditary Spherocytosis Right Ans - Inherited defect of RBC cytoskeleton-
membrane tethering proteins
Sickle Cell Anemia Right Ans - Autosomal recessive mutation in beta chain
of hemoglobin; a single amino acid change replaces normal glutamic acid
(hydrophilic) with valine (hydrophobic)
Paroxysmal Nocturnal Hemoglobinuria (PNH) Right Ans - Acquired defect
in myeloid stem cells resulting in absent glycosylphosphatidylinositol (GPI);
renders cells susceptible to destruction by complement
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency Right Ans - X-
linked recessive disorder resulting in reduced half-life of G6PD; renders cells
susceptible to oxidative stress
Immune Hemolytic Anemia Right Ans - Antibody-mediated (IgG or IgM)
destruction of RBCs
Microangiopathic Hemolytic Anemia Right Ans - Intravascular hemolysis
that results from vascular pathology; RBCs are destroyed as they pass through
the circulation
Malaria Right Ans - Infection of RBCs and liver with Plasmodium;
transmitted by the female Anopheles mosquito
Parvovirus B19 Right Ans - Infects progenitor red cells and temporarily
halts erythropoiesis; leads to significant anemia in the setting of preexisting
marrow stress (e.g., sickle cell anemia)
Aplastic Anemia Right Ans - Damage to hematopoietic stem cells, resulting
in pancytopenia (anemia, thromobocytopenia, and leukopenia) with low
reticulocyte count
Infectious Mononucleosis Right Ans - EBV infection that results in a
lymphocytic leukocytosis comprised of reactive CD8+ T cells; CMV is a less
common cause
Acute Lymphoblastic Leukemia (ALL) Right Ans - Neoplastic accumulation
of lymphoblasts (>20%) in the bone marrow
DiGeorge Syndrome Right Ans - Developmental failure of the 3rd and 4th
pharyngeal pouches
Severe Combined Immunodeficiency (SCID) Right Ans - Defective cell-
mediated and humoral immunity
X-Linked Agammaglobulinemia Right Ans - Complete lack of
immunoglobulin due to disordered B-cell maturation
Common Variable Immunodeficiency (CVID) Right Ans - Low
immunoglobulin due to B-cell or helper T-cell defects
IgA Deficiency Right Ans - Low serum and mucosal IgA
Hyper-IgM Syndrome Right Ans - Characterized by elevated IgM
Wiskott-Aldrich Syndrome Right Ans - Characterized by
thrombocytopenia, eczema, and recurrent infections (defective humoral and
cellular immunity)
Systemic Lupus Erythematosus (SLE) Right Ans - Systemic autoimmune
disease
Sjogren Syndrome Right Ans - Autoimmune destruction of lacrimal and
salivary glands
Scleroderma Right Ans - Autoimmune tissue damage with activation of
fibroblasts and deposition of collagen (fibrosis)
Mixed Connective Tissue Disease Right Ans - Autoimmune-mediated tissue
damage with mixed features of SLE, systemic sclerosis, and polymyositis
Immune Thrombocytopenic Purpura (ITP) Right Ans - Autoimmune
production of IgG against platelet antigens
Microangiopathic Hemolytic Anemia Right Ans - Pathologic formation of
platelet microthrombi in small vessels
,Bernard-Soulier Syndrome Right Ans - Due to a genetic GPIb deficiency;
platelet adhesion is impaired
Glanzmann Thrombasthenia Right Ans - Due to a genetic GPIIb/IIIa
deficiency; platelet aggregation is impaired
Hemophilia A Right Ans - Genetic factor VIII deficiency
Hemophilia B (Christmas Disease) Right Ans - Genetic factor IX deficiency
Coagulation Factor Inhibitor Right Ans - Acquired antibody against a
coagulation factor resulting in impaired factor function
Von Willebrand Disease Right Ans - Genetic vWF deficiency
Heparin-Induced Thrombocytopenia Right Ans - Platelet destruction that
arises secondary to heparin therapy
Disseminated Intravascular Coagulation (DIC) Right Ans - Pathologic
activation of the coagulation cascade
Anemia Right Ans - Disruption in circulating red blood cell (RBC) mass
Anemia of Chronic Disease Right Ans - Anemia associated with chronic
inflammation or cancer
Iron Deficiency Anemia Right Ans - Anemia due to decreased levels of iron
Sideroblastic Anemia Right Ans - Anemia due to defective protoporphyrin
synthesis
Thalassemia Right Ans - Anemia due to decreased synthesis of the globin
chains of hemoglobin
Megaloblastic Anemia Right Ans - Anemia due to folate or vitamin B12
deficiency
, Hereditary Spherocytosis Right Ans - Inherited defect of RBC cytoskeleton-
membrane tethering proteins
Sickle Cell Anemia Right Ans - Autosomal recessive mutation in beta chain
of hemoglobin; a single amino acid change replaces normal glutamic acid
(hydrophilic) with valine (hydrophobic)
Paroxysmal Nocturnal Hemoglobinuria (PNH) Right Ans - Acquired defect
in myeloid stem cells resulting in absent glycosylphosphatidylinositol (GPI);
renders cells susceptible to destruction by complement
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency Right Ans - X-
linked recessive disorder resulting in reduced half-life of G6PD; renders cells
susceptible to oxidative stress
Immune Hemolytic Anemia Right Ans - Antibody-mediated (IgG or IgM)
destruction of RBCs
Microangiopathic Hemolytic Anemia Right Ans - Intravascular hemolysis
that results from vascular pathology; RBCs are destroyed as they pass through
the circulation
Malaria Right Ans - Infection of RBCs and liver with Plasmodium;
transmitted by the female Anopheles mosquito
Parvovirus B19 Right Ans - Infects progenitor red cells and temporarily
halts erythropoiesis; leads to significant anemia in the setting of preexisting
marrow stress (e.g., sickle cell anemia)
Aplastic Anemia Right Ans - Damage to hematopoietic stem cells, resulting
in pancytopenia (anemia, thromobocytopenia, and leukopenia) with low
reticulocyte count
Infectious Mononucleosis Right Ans - EBV infection that results in a
lymphocytic leukocytosis comprised of reactive CD8+ T cells; CMV is a less
common cause
Acute Lymphoblastic Leukemia (ALL) Right Ans - Neoplastic accumulation
of lymphoblasts (>20%) in the bone marrow
