immuno deficiencies Flashcards
x-linked agammaglobulinemia
-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
selective IgA deficiency
-recurrent sinopulmonary infections, otitis media, sinusitis
-recurrent giardiasis in gut => diarrhea
-anaphalyxis if given blood with IgA
-false positive bHcG due to heterophiles antibodies
common variable immune deficiency
-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)
wiscott aldrich syndrome
-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
hyper IgM
-defective CD40 so no co-stimulatory signal means no class switching
-small/no germinal (B) centers
-x linked recessive
severe combined immunodeficiency
- 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
ataxia teleangiectasia
-cerebellar atrophy
-ATM gene mutation
- decreased DNA damage surveillance
- increased AFP
Lambert eaton
anti presynaptic calcium channels, associated with small cell lung cancer
anti cardiolipin antibodies
anti phospholipid syndrome
- pregnant women with multiple miscarriages due to recurrent thrombosis
chronic granulomatous disese
due to NADPH oxidase deficiency
immune destruction of melanocytes
vitiligo
multiple myeloma and bone
stimulate osteoclastic activity, secrete RANK ligand and destroy osteoprotegrin
vitamins absent in breast milk
D and K
HIV in neonates
oral thrush, lymphopenia, interstitial pneumonia
autosomal recessive disorder characterized by lack of CD18
Leukocyte adhesion deficiency (neutrophilia)
most important immune cell in defense against invasive candida
neutrophils (patients with neutropenia - chemo - will get disease)
isoniazid can cause
sideroblastic anemia
- decreased ALA synthase
-pyridoxine is important
anti Hbs
confers long term immunity in Hep B
HbsAg
persistence means chronic infection
anti HBc IgG
not present after vaccination
acute hepatitis viral infection markers
HBsAg and HBeAg
sickle cell protein missense
valine from glutamic acid
DiGeorge Characteristics CATCH 22
- 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
homocysteinuria
most common inborn error of methionine metabolism, ectopia lenses (lens subluxation), intellectual disability, marfanoid habitus, hypercoagulability, restrict methionine; give pyridoxine
