Immunodeficiencies Flashcards
Nomal cell mediated; Low levels of all immunoglobulins; tyrosine kinase deficiency
x-Linked agammaglobulinemia/Bruton’s Agammaglobulinemia
6 mos male infant; recurrent pyogenic and enteroviral infections; recurrent giardiasis
x-Linked agammaglobulinemia/Bruton’s Agammaglobulinemia
Failure of isotype switching; do not give gamma globulin
Selective IgA deficiency
Defect in B-cell maturation to plasma cells; Most common form of severe antibody deficiency affecting both children and adults
Common Variable Immunodeficiency
CATCH 22 = DiGeorge Syndrome
Cardiac Anomalies (TOF); Abnormal Fascies; Thymic aplasia; Cleft Palate; Hypocalcemia; 22q11.2 Chromosomal Deletion
specific T-cell defeciency for Candida Albicans
Chronic Mucocutaneous Candidiasis
X-linked defect in IL-2 receptors in T-cells
SCID
autosomal Adenosine deaminase deficiency
SCID
Inability to mount IgM response
Wiskott-Aldrich Syndrome
WASP Gene Mutation (how do you TIE a WASP?)
Thrombocytopenia, Infections, Eczema, WASP Mutation)
ATI of Ataxia-Telangiectasia
Ataxia, Telangectasia, IgA deficiency
Lack of NADPH Oxidase activity; Failure of oxidative burst
Chronic Granulomatous Disease
Diagnostic Test for Chronic Granulomatous Disease
Nitroblue Tetrazolium
Autosomal recessive; failure of phaglysosomal fusion presenting as recurrent pyogenic infections caused by staph and strep
Chediak-Higashi Syndrome
Mutation in integrins; defective adhesion (LFA-1) proteins on the surface phagocytes
Leukocyte Adhesion Deficiency