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Flashcards in Diseases Deck (46)
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1

adherence disorder. CD18 def → cells can’t travel to soft tissue → recurrent skin, mucous membrane infections. AR.

leukocyte adhesion deficiency I

2

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

3

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

4

What test do you used to diagnose chronic granulomatous disorder?

nitroblue tetrazolium chloride test. will not see blue if +.

5

How do you treat chronic granulomatous disorder?

BMT

6

mut in ELA-1 or HAX-1 → no maturation beyond promyelocytes. Die before age 2 or → leukemia, MDS.

kostman syndrome

7

how do you treat kostman syndrome?

BMT

8

mut in SDBS → precursor apoptosis → pancreatic insufficiency, fat malabsorption, bony abnormalities.

shwachman diamond syndrome

9

how do you treat shwachman diamond syndrome?

pancreatic enzymes, surgery if necessary, G-CSF. BMT if really bad.

10

FAS apoptosis of precursors → neutropenic for 5-7 days of 20-25 day cycle.

cyclic neutropenia

11

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.

12

onset around 8-11 months. ANC responds to infection, resolves.

benign neutropenia of childhood

13

autoantibodies against neutrophils

autoimmune/alloimmune neutropenia

14

neutropenia caused by severe infection, bacterial pathogens, C5a markedly increased.

psuedoneutropenia

15

What bactiera can cause infections leading to neutropenia?

sepsis, brucellosis, tuberculosis, typhoid, tuaremia, paratyphoid

16

: neutrophil chemotaxis disorder. decreased actin assembly → decreased chemotaxis, decreased ingestion → recurrent severe infections.

chemotactic disorder

17

granule defect disorder in whichcan’t produce granules/contents → decreased chemotaxis, decreased microbial activity → recurrent skin and deep tissue infections

specific granule deficiency

18

granule defect disorder in which mut in CHS1 → big granules → albinism, photophobia, onset with infection.

chediak-higashi syndrome

19

granule defect disorder. defect in killing bacteria, esp. candida → increased fungal infections, otherwise healthy–ish. Associated with diabetes.

myeloperoxidase deficiency

20

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

21

How to treat children with SCID?

BMT, irradiated RBCs, purified ADA, gene replacement therapies?

22

defective protein kinase btk → pre-B cells can’t mature. Pneumonia, chronic diarrhea. Decreased B cells, decreased serum IgG.

x-linked bruton agammaglobulinemia

23

how to treat x-linked agammaglobulinemia?

IVIG

24

defect in CD40 ligand on Tfh or CD40 on b cells → defect in switch mechanism. Increased IgM, decreased IgA, IgG.

x-linked hyperIgM syndrome

25

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

26

deletion on chromosome 22 → abnormal 3rd and 4th pharyngeal pouch development → no thymus. Convulsions due to hypocalcemia, mental retardation, hypoparathyroidism.

DiGeorge syndrome

27

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

28

What type of infection to look for in T-deficiencies?

intracellular pathogens: candida albicans, pnuemocystis jirovecii

29

what type of infection to look for in B-deficiencies?

high-grade extracellular pyogenic bacterial pathogens. staph, flu, strep

30

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