Diseases Flashcards
adherence disorder. CD18 def → cells can’t travel to soft tissue → recurrent skin, mucous membrane infections. AR.
leukocyte adhesion deficiency I
adherence disorder. bad transferase, can’t transfer sialyl LeX to selectins → decrease neutrophil ability to roll on surfaces → recurrent infections, mental retardations, craniofacial abnormalities. AR.
leukocyte adhesion deficiency II
bactericidal activity disorder. 1 of 4 oxidase components defective → no production of oxygen radicals to kill → granulomas due to recurrent purulent infections with catalase + (staph aspergillis), fungi in skin, mucosa.
chronic granulomatous disorder
What test do you used to diagnose chronic granulomatous disorder?
nitroblue tetrazolium chloride test. will not see blue if +.
How do you treat chronic granulomatous disorder?
BMT
mut in ELA-1 or HAX-1 → no maturation beyond promyelocytes. Die before age 2 or → leukemia, MDS.
kostman syndrome
how do you treat kostman syndrome?
BMT
mut in SDBS → precursor apoptosis → pancreatic insufficiency, fat malabsorption, bony abnormalities.
shwachman diamond syndrome
how do you treat shwachman diamond syndrome?
pancreatic enzymes, surgery if necessary, G-CSF. BMT if really bad.
FAS apoptosis of precursors → neutropenic for 5-7 days of 20-25 day cycle.
cyclic neutropenia
what viruses should be checked in a patient suspected to have secondary neutropenia due to viral infection?
EBV, varicella, mumps, measles, CMV, hepatitis,HIV. influenza, roseola, parvovirus, RSV.
onset around 8-11 months. ANC responds to infection, resolves.
benign neutropenia of childhood
autoantibodies against neutrophils
autoimmune/alloimmune neutropenia
neutropenia caused by severe infection, bacterial pathogens, C5a markedly increased.
psuedoneutropenia
What bactiera can cause infections leading to neutropenia?
sepsis, brucellosis, tuberculosis, typhoid, tuaremia, paratyphoid
: neutrophil chemotaxis disorder. decreased actin assembly → decreased chemotaxis, decreased ingestion → recurrent severe infections.
chemotactic disorder
granule defect disorder in whichcan’t produce granules/contents → decreased chemotaxis, decreased microbial activity → recurrent skin and deep tissue infections
specific granule deficiency
granule defect disorder in which mut in CHS1 → big granules → albinism, photophobia, onset with infection.
chediak-higashi syndrome
granule defect disorder. defect in killing bacteria, esp. candida → increased fungal infections, otherwise healthy–ish. Associated with diabetes.
myeloperoxidase deficiency
IL-2 receptor gene defect, x-linked recessive. OR adenosine deaminase deficiency, AR → accumulates in lymphocytes→ impaired development. Defects in VDJ rearrangement in Navajo children. Absent thymic shadow on x-ray. Decreased T cells, B cells.
severe combined deficiency disease, SCID
How to treat children with SCID?
BMT, irradiated RBCs, purified ADA, gene replacement therapies?
defective protein kinase btk → pre-B cells can’t mature. Pneumonia, chronic diarrhea. Decreased B cells, decreased serum IgG.
x-linked bruton agammaglobulinemia
how to treat x-linked agammaglobulinemia?
IVIG
defect in CD40 ligand on Tfh or CD40 on b cells → defect in switch mechanism. Increased IgM, decreased IgA, IgG.
x-linked hyperIgM syndrome
group of 20 conditions. Normal B cell levels, but difficulty triggering specific antibody. Relatively milder than others, can be diagnosed in patient age 50.
common variable immunodeficiency
deletion on chromosome 22 → abnormal 3rd and 4th pharyngeal pouch development → no thymus. Convulsions due to hypocalcemia, mental retardation, hypoparathyroidism.
DiGeorge syndrome
How to treat DiGeorge syndrome?
thymus transplantation in complete DiGeorge Syndrome, often need cardiac surgery, prophylactic antibiotics in combo and changed monthly. Hypoparathyroidism → lifelong calcium and vitamin D supplements
What type of infection to look for in T-deficiencies?
intracellular pathogens: candida albicans, pnuemocystis jirovecii
what type of infection to look for in B-deficiencies?
high-grade extracellular pyogenic bacterial pathogens. staph, flu, strep
can present from 6 months-18 months afer birth, recurrent and persistent bacterial infections. 15% of all chronic diarrhea in infants due to this. IgG down?
transient hypogammaglobulinemia
an immunodeficiency usually asymptomatic, can have diarrhea, sinopulmonary infections, etc.
selective IgA deficiency
defect in DNA repair, rare neurodegenerative disease causing severe disability. Have neuro probs after 4-5 y/o. ataxia, telangiectasia (dilated abnormal blood vessels). T cell count low, no/ really decreased IgA. Elevated alpha-fetoprotein
ataxia telangiectasia
platelet and B cell deficiency, get eczema, many bacterial infections
wiskott-aldrich syndrome
antibodies against AChR. progressive muscle weakness. Hyperplasia in thymus due to TH1 cells against AChR attack antigen on surface of intrathymic muscles.
myasthenia gravis
how to treat myasthenia gravis?
thymectomy
cross-reaction between Group A streptococcus M-protein and a structure on heart’s endothelial lining → neutrophil mediated destruction of heart valves. Fever is more widespread including skin and CNS.
rheumatic heart disease/fever
autoantibody that reacts with heart, produced after a heart attack. normally does not cause harm. Here, persistent cardiac pain, fever, malaise, pericardial effusion.
dressler syndrome
how to treat dressler syndrome?
anti-inflammatory agents
autoantibodies to lung and kidney basement membrane. Persistent glomerular nephritis, pneumonitis with pulmonary hemorrhages.
goodpasture syndrome
Bleeding abnormalities due to destruction of platelets by autoantibody.
autoimmune thrombocytopenic purpura
How to treat autoimmune thrombocytopenic purpura?
suppress immune system or remove spleen
autoantibodies targeting RBCs, can be warm or cold.
autoimmune hemolytic anemia
multifactorial autoimmune disease genetic environmental causes and triggers, antibodies to nuclear and nucleolar proteins, DNA, RNA, etc. Immune complex-like glomerulonephritis (type III), variety of autoantibodies (type II).
systemic lupus eythromatosis
PAD14 gene linked, initially seems antibody-mediated, but most of pathogenesis due to t cells in the small joints
rheumatoid arthritis
t cell and b cell immunity to various thyroid agents. Destructive → hypothyroidism
hashimoto’s thyroiditis
how to treat hashimoto’s thyroiditis?
synthroid
