immuno deficiencies

Question 1

x-linked agammaglobulinemia

Answer 1

-brutons tyrosine kinase defect
-x chromosome
-inability of B cell precursors to mature into B cells
-low Ig of all kinds
-recurrent sinopulmonary infections (haemphilus, strep pneumono)
-appears after 6 months after maternal antibodies go away
-underdeveloped germinal centers
-treat with IvIg

Question 2

selective IgA deficiency

Answer 2

-recurrent sinopulmonary infections, otitis media, sinusitis
-recurrent giardiasis in gut => diarrhea
-anaphalyxis if given blood with IgA
-false positive bHcG due to heterophiles antibodies

Question 3

common variable immune deficiency

Answer 3

-defective B cell maturation but there are B cells just no immune globulins
-appears in puberty and girls! (whereas x linked agammaglobulinemia appears in infants)

Question 4

wiscott aldrich syndrome

Answer 4

-B and T cell deficiency
-x linked recessive (boys)
-recurrent sinopulmonary infections, diarrhea, otitis media, susceptible to viral, bacterial (encapsulated), fungal infections
-low-normal IgG and IgM
-high IgE and IgA
-defect in was gene, defective actin cytoskeleton on T cells
-thrombocytopenia
- may have eczema

Question 5

hyper IgM

Answer 5

-defective CD40 so no co-stimulatory signal means no class switching
-small/no germinal (B) centers
-x linked recessive

Question 6

severe combined immunodeficiency

Answer 6

• fatal under a year unless treated
• defect in adenosine deaminase
• no purine metabolism of lymphocytes
• no B, T, or NK cells
• Rag 1/2 mutation no B/T cells
• no germinal centers
  -x linked recessive resulting
• cytokine receptor mutations (mutation in IL 7)
• all immunoglobulins are low
• T cells low to absent (CD3)
• thyme hypoplasia/absent thymic shadow

Question 7

ataxia teleangiectasia

Answer 7

-cerebellar atrophy
-ATM gene mutation
- decreased DNA damage surveillance
- increased AFP

Question 8

Lambert eaton

Answer 8

anti presynaptic calcium channels, associated with small cell lung cancer

Question 9

anti cardiolipin antibodies

Answer 9

anti phospholipid syndrome
- pregnant women with multiple miscarriages due to recurrent thrombosis

Question 10

chronic granulomatous disese

Answer 10

due to NADPH oxidase deficiency

Question 11

immune destruction of melanocytes

Answer 11

vitiligo

Question 12

multiple myeloma and bone

Answer 12

stimulate osteoclastic activity, secrete RANK ligand and destroy osteoprotegrin

Question 13

vitamins absent in breast milk

Answer 13

D and K

Question 14

HIV in neonates

Answer 14

oral thrush, lymphopenia, interstitial pneumonia

Question 15

autosomal recessive disorder characterized by lack of CD18

Answer 15

Leukocyte adhesion deficiency (neutrophilia)

Question 16

most important immune cell in defense against invasive candida

Answer 16

neutrophils (patients with neutropenia - chemo - will get disease)

Question 17

isoniazid can cause

Answer 17

sideroblastic anemia
- decreased ALA synthase
-pyridoxine is important

Question 18

anti Hbs

Answer 18

confers long term immunity in Hep B

Question 19

HbsAg

Answer 19

persistence means chronic infection

Question 20

anti HBc IgG

Answer 20

not present after vaccination

Question 21

acute hepatitis viral infection markers

Answer 21

HBsAg and HBeAg

Question 22

sickle cell protein missense

Answer 22

valine from glutamic acid

Question 23

DiGeorge Characteristics CATCH 22

Answer 23

• Cardiac outflow tract anomalies (eg, tetralogy of Fallot, persistent truncus arteriosus)
• Anomalous face (eg, prominent nasal bridge, low-set ears, micro/retrognathia)
• Thymic hypoplasia / aplasia → decreased T-cell immunity
• Cleft palate
• Hypoparathyroidism (hypoplastic / aplastic parathyroids) → hypocalcemia

Question 24

homocysteinuria

Answer 24

most common inborn error of methionine metabolism, ectopia lenses (lens subluxation), intellectual disability, marfanoid habitus, hypercoagulability, restrict methionine; give pyridoxine