Immunodeficiency Disorders Flashcards
Immunodefficiency characterized by very low levels of all immunoglobulins
X linked Agammaglobulinemia
Immunodefficiency characterized by failure of isotype switching
Selective IgA defficiency
In X linked Agammaglobulinemia, there is virtual absence of B cells due to
Tyrosine kinase mutation
Immunodefficiency characterized by defect in B cell maturation to plasma cells
Common Variable Immunodefficiency
It is the most common form of severe antibody defficiency affecting both children and adults
Common Variable Immunodefficiency
Immunodefficiency characterized by failure of development if thymus and parathyroids
Di George Syndrome
Manifestations and clinical presentation of Di george Syndrome
Cardiac defect TOF Abnormal facies Thymic aplasia Tetany due to hypocalcemia Cleft palate Hypocalcemia 22q11.2 chromosomal deletion
Immunodefficiency characterized by x linked defect in IL2 receptors in T cells
Severe Combined Immunodeficiency
Immunodefficiency characterized by inability to mount an IgM response
Wiskott Aldrich Syndrome
Wilcott Aldrich Syndrome involves mutation in
WASP gene for actin filament assembly
Triad of Wilcott Aldrich Syndrome
Thrombocytopenia
Infection
Eczema
Immunodefficiency characterized by lack of NADPH oxidase activity
Chronic granulomatous disease
Diagnostic test for Chronic Granulomatous Disease
Nitroblue Tetrazolium Test
Immunodefficiency characterized by failure of phagolysosomal fusion
Chediak Higashi Syndrome
Immunodefficiency characterized by delayed separation of umbilical cord
Leukocyte Adhesion Deficiency