Diseases

Question 1

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

Answer 1

leukocyte adhesion deficiency I

Question 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.

Answer 2

leukocyte adhesion deficiency II

Question 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.

Answer 3

chronic granulomatous disorder

Question 4

What test do you used to diagnose chronic granulomatous disorder?

Answer 4

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

Question 5

How do you treat chronic granulomatous disorder?

Answer 5

BMT

Question 6

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

Answer 6

kostman syndrome

Question 7

how do you treat kostman syndrome?

Answer 7

BMT

Question 8

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

Answer 8

shwachman diamond syndrome

Question 9

how do you treat shwachman diamond syndrome?

Answer 9

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

Question 10

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

Answer 10

cyclic neutropenia

Question 11

what viruses should be checked in a patient suspected to have secondary neutropenia due to viral infection?

Answer 11

EBV, varicella, mumps, measles, CMV, hepatitis,HIV. influenza, roseola, parvovirus, RSV.

Question 12

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

Answer 12

benign neutropenia of childhood

Question 13

autoantibodies against neutrophils

Answer 13

autoimmune/alloimmune neutropenia

Question 14

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

Answer 14

psuedoneutropenia

Question 15

What bactiera can cause infections leading to neutropenia?

Answer 15

sepsis, brucellosis, tuberculosis, typhoid, tuaremia, paratyphoid

Question 16

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

Answer 16

chemotactic disorder

Question 17

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

Answer 17

specific granule deficiency

Question 18

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

Answer 18

chediak-higashi syndrome

Question 19

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

Answer 19

myeloperoxidase deficiency

Question 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.

Answer 20

severe combined deficiency disease, SCID

Question 21

How to treat children with SCID?

Answer 21

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

Question 22

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

Answer 22

x-linked bruton agammaglobulinemia

Question 23

how to treat x-linked agammaglobulinemia?

Answer 23

IVIG

Question 24

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

Answer 24

x-linked hyperIgM syndrome

Question 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.

Answer 25

common variable immunodeficiency

Question 26

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

Answer 26

DiGeorge syndrome

Question 27

How to treat DiGeorge syndrome?

Answer 27

thymus transplantation in complete DiGeorge Syndrome, often need cardiac surgery, prophylactic antibiotics in combo and changed monthly. Hypoparathyroidism → lifelong calcium and vitamin D supplements

Question 28

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

Answer 28

intracellular pathogens: candida albicans, pnuemocystis jirovecii

Question 29

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

Answer 29

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

Question 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?

Answer 30

transient hypogammaglobulinemia

Question 31

an immunodeficiency usually asymptomatic, can have diarrhea, sinopulmonary infections, etc.

Answer 31

selective IgA deficiency

Question 32

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

Answer 32

ataxia telangiectasia

Question 33

platelet and B cell deficiency, get eczema, many bacterial infections

Answer 33

wiskott-aldrich syndrome

Question 34

antibodies against AChR. progressive muscle weakness. Hyperplasia in thymus due to TH1 cells against AChR attack antigen on surface of intrathymic muscles.

Answer 34

myasthenia gravis

Question 35

how to treat myasthenia gravis?

Answer 35

thymectomy

Question 36

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.

Answer 36

rheumatic heart disease/fever

Question 37

autoantibody that reacts with heart, produced after a heart attack. normally does not cause harm. Here, persistent cardiac pain, fever, malaise, pericardial effusion.

Answer 37

dressler syndrome

Question 38

how to treat dressler syndrome?

Answer 38

anti-inflammatory agents

Question 39

autoantibodies to lung and kidney basement membrane. Persistent glomerular nephritis, pneumonitis with pulmonary hemorrhages.

Answer 39

goodpasture syndrome

Question 40

Bleeding abnormalities due to destruction of platelets by autoantibody.

Answer 40

autoimmune thrombocytopenic purpura

Question 41

How to treat autoimmune thrombocytopenic purpura?

Answer 41

suppress immune system or remove spleen

Question 42

autoantibodies targeting RBCs, can be warm or cold.

Answer 42

autoimmune hemolytic anemia

Question 43

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).

Answer 43

systemic lupus eythromatosis

Question 44

PAD14 gene linked, initially seems antibody-mediated, but most of pathogenesis due to t cells in the small joints

Answer 44

rheumatoid arthritis

Question 45

t cell and b cell immunity to various thyroid agents. Destructive → hypothyroidism

Answer 45

hashimoto's thyroiditis

Question 46

how to treat hashimoto's thyroiditis?

Answer 46

synthroid