Immunodeficiency Syndromes

Question 1

SCID 1.) Disease Group 2.) Problem 3.) Defining features

Answer 1

1. ) T cell deficiencies
2. ) Complete lack of immune fxn due to diminished or absent T cells
3. ) Presents in infancy; thrush; no T cells – possibly no B/NK cells either

Question 2

DiGeroge Syndrome 1.) Disease Group 2.) Problem 3.) Defining features

Answer 2

1. ) T cell deficiencies
2. )Defect that impacts end organs derived from 3rd and 4th pharyngeal arches
3. ) Tetralogy of fallot, hypocalcemia, cleft palate, low set ears, atresic thymus -> low/absent T cells

Question 3

Wiskott-Aldrich 1.) Disease Group 2.) Problem 3.) Defining features

Answer 3

1.) T cell deficiencies
2.) Mtn in WPS gene – critical for cytoskeletal org of platelets
3.) Low T cells w/ normal or low B cells
Low platelets
Bleeding, petechiae, ecchymoses

Question 4

Ataxia Telangiectasia 1.) Disease Group 2.) Problem 3.) Defining features

Answer 4

1.) T cell deficiencies
2.) Variable T cell defect – low CD3+/CD4+
3.) Neurologic defects -> progressive loss of motor skills beginning in early childhood
Telangiectasias – tiny, red “spider” veins that appear later in childhood

Question 5

Selective IgA deficiency 1.) Disease Group 2.) Problem 3.) Defining features

Answer 5

1. ) B cell deficiencies
2. ) Decreased/absent IgA
3. ) Usually asymptomatic – may present w/ recurring infections, Look to IgA lvls

Question 6

Agammaglobulinemia 1.) Disease Group 2.) Problem 3.) Defining features

Answer 6

1.) B cell deficiencies
2.) Intrinsic B-cell disorder resulting from defect in Bruton tyrosine kinase -> maturation arrest of pre-B cells
3.) All types of Igs are either markedly reduced or absent
Nearly absent B cells in peripheral blood

Question 7

Common Variable ID 1.) Disease Group 2.) Problem 3.) Defining features

Answer 7

1. ) B cell deficiencies
2. ) Low lvls of serum Igs
3. ) Adult onset; presents w/ recurrent respiratory tract infections

Question 8

Chronic Granulomatous Disease 1.) Disease Group 2.) Problem 3.) Defining features

Answer 8

1. ) Phagocytic disorders
2. ) Mtns in any of 4 genes that cause deficient fxn of elements of phagocyte oxidase complex (NADPH oxidase) -> deficient production of superoxide
3. ) Dx test: SO assay – no color change; HSM; cultured by unusual organism; often cutaneous infections

Question 9

Chediak-Higashi Syndrome 1.) Disease Group 2.) Problem 3.) Defining features

Answer 9

1. ) Phagocytic disorders
2. ) Defect in protein that transports materials into lysosomes -> fusion of primary and secondary granules in neutrophil
3. ) Presence of large abnormal granules in peripheral smear; cutaneous infections; partial oculo-cutaneous albinism

Question 10

Late component 1.) Disease Group 2.) Problem 3.) Defining features

Answer 10

1. ) Complement deficiencies
2. ) Late components of complement system are ineff/missing
3. ) Neisseria infections