Exam 19: Immunodeficiency Diseases

Leukocyte adhesion deficiency is caused by a defect in:

A 6-month-old baby has suffered from recurrent bacterial infections.Flow cytometry results indicate a lack of B cells but the presence of normally functioning T cells.Which is the most likely diagnosis?

A 1-year-old boy is evaluated for a suspected immune deficiency.He has a history since birth of eczema,recurrent rashes,and diarrhea.His white blood cell count (WBC)count is 6.75/uL (normal values: 5.0-10.8 × 103 uL)with a normal differential.Platelet count is 35,000 (normal values: 150,000-350,000/uL),and the platelets are small.His IgG is 750 mg/dL (normal values: 600-1,500 mg/dL).IgM is 30 mg/dL (normal values; 75-150 mg/dL).IgA is 475 mg/dL (normal values: 50-125 mg/dL).IgE is 750 mg/dL (10-50 mg/dL).The boy's blood is typed as O-positive,and he does not have anti-A or anti-B antibodies.Flow cytometry performed on his blood shows 11% CD19 (normal values: 5%-20%)and 50% CD3 cells (normal values: 60%-80%)with a normal ratio of CD4:CD8.T-cell function tests are abnormal.This boy most likely has:

The accumulation of immune complexes in renal glomeruli or joints (lupus-like syndromes)can be caused by a deficiency in the complement component:

Which is true of selective IgA deficiency?

Patients with recombinase activating gene 1 (RAG-1)or RAG-2 deficiencies have decreased numbers of:

A patient's total IgG is in the normal range,but he suffers from recurrent infections with encapsulated bacteria such as Streptococcus pneumoniae and Haemophilus influenza.T-cell functions are all normal.What is the most likely cause of the infections?

Which of the following diseases results in an acquired or secondary immunodeficiency?

A 9-month-old boy is suspected of having an immune deficiency because he had many recurrent infections with Streptococcus pneumoniae.Laboratory tests reveal a normal percentage of T cells and T-cell subsets but a lack of mature B cells and immunoglobulins.This boy most likely has:

Defects in oxidative burst activity can be detected using flow cytometry by labeling patient neutrophils with:

An autosomal-recessive disease characterized by the presence of abnormally large granules primarily affecting the function of lysosomes is known as:

A male baby who has suffered from persistent Candida fungal infections and several bouts of pneumonia before the age of 6 months is found to have some developmental problems as well as low-set ears.Laboratory testing reveals an absence of T cells.What is the most likely diagnosis?

The most serious impairment of opsonization and antimicrobial defense is caused by a deficiency in complement component:

Which of the following statements best describes common variable immunodeficiency?

A 7-month-old boy is seen by a specialist because of hypocalcemia,viral pneumonia,a history significant for recurrent diarrhea,and oral candidiasis.An x-ray reveals the lack of a thymic shadow.A likely diagnosis for this boy is:

The buildup of toxic purine metabolites that impair B- and T-cell proliferation is the result of a mutation in the gene coding for:

A 9-month-old infant is seen by a physician because of a persistent skin infection.His white and red blood cell counts are normal.However,immunofixation electrophoresis indicates a low level of IgG.When the infant returns to the physician for a follow-up visit in a month,his IgG level has increased.What condition do these results indicate?

An autosomal-recessive form of severe combined immunodeficiency can be caused by a deficiency in:

A child suspected of having an inherited humoral immunodeficiency disease is given a diphtheria/tetanus vaccine.Two weeks after the immunization,his level of antibody to the specific antigens is measured.Which result is expected for this patient if he does have this deficiency?

A defective kinase needed for DNA repair and cell cycle control leads to involuntary muscle movements and dermal capillary swelling in which syndrome?