Immunodeficiency Disorders Flashcards
Recurrent infections with pyogenic bacteria
B cell deficiency
Recurrent infections with fungi, viruses or protozoa
T cell deficiency
Low levels of all immunoglobulins due to absence of B cells
X-linked/Bruton’s agammaglobulinemia
Recurrent bacterial sinus and lung infections due to a failure of isotype switching
Selective IgA deficiency
Defect in B cell maturation to plasma cells
Common variable immunodeficiency
Defect in 3rd and 4th pharyngeal pouches; profound T cell deficiency
DiGeorge syndrome
Symptoms of DiGeorge syndrome
Cardiac defect (TOF), Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia, 22q11.2 chromosomal deletion
Mutation in WASP gene, inability to mount IgM response
Wiskott-Aldrich syndrome
Triad of Wiskott-Aldrich syndrome
Infection (pyogenic), eczema, thrombocytopenia
Mutation in DNA repair enzymes; causes ataxia, telangiectasia, IgA deficiency
Ataxia-telangiectasia
Lack of NADPH oxidase; failure of oxidative burst
Chronic granulomatous disease
Infections in chronic granulomatous disease
Catalase-positive bacteria (staph), fungi (Aspergillus fumigatus)
Diagnostic of choice for chronic granulomatous disease
Nitroblue tetrazolium test
Impaired microtubule assembly leading to failure of neutrophil chemotaxis
Chediak-Higashi syndrome
Mutation in integrins and defective LFA-1 proteins cause failure of cellular rolling
Leukocyte adhesion deficiency (Lazy leukocyte disease)
Earliest sign of lazy leukocyte disease
Failure of separation of the umbilical cord by 10th day of life
Most common early complement deficiency
C2 deficiency
Recurrent staph aureus infections
C3 deficiency
Symptoms of terminal complement deficiency
Frequent infection with N. gonorrhea and N. meningitidis due to inability to form MAC
Most common cause of secondary immunodeficiency
Malnutrition
Opportunistic infections due to decreased CD4+
AIDS
