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Biochemistry 3-4: Immunodeficiency 1&2 Flashcards

1
Q

Definition: it is the absence or failure of normal function of one or more elements of the immune system.

A

Immunodeficiency.

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2
Q

The consequences of a failure in the immune system leads to what?

A

Increased risk of infection, autoimmune disease, hypersensitivity, or even cancer.

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3
Q

Definition: the failure of the immune system to protect against disease or malignancy.

A

Immunodeficiency.

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4
Q

What causes primary immunodeficiency? And when does it show up?

A

Caused by genetic or developmental defects in the immune system. These defects are present at birth but may show up later on in life.

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5
Q

Definition: the loss of immune function as a result of exposure to disease agents, environmental factors, immunosuppression, or aging.

A

Secondary or acquired immunodeficiency.

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6
Q

List the 4 types of primary immunodeficiency diseases?

A

1- antibody production defects.
2- cellular or combined defects.
3- phagocytic cell immune defects.
4- complement defects.

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7
Q

Give 4 examples of primary immunodeficiencies antibody production defects?

A

1- X-linked agammaglobulinemia (Bruton’s).
2- common variable immunodeficiency (CVID).
3- selective IgA deficiency.
4- X-linked or autosomal hyper IgM syndrome.

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8
Q

Give 4 examples of primary immunodeficiencies cellular or combined defects?

A

1- severe combined immunodeficiency.
2- DiGeorge syndrome.
3- Ataxia Telangiectasia.
4- Wiskott-Aldrich syndrome.

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9
Q

Give 4 examples of primary immunodeficiencies phagocytic cell immune defects?

A

1- Leukocyte adhesion defects.
2- Chronic granulomatous disease.
3- Chediak Higashi syndrome.
4- Cyclic neutropenia kostman diseases.

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10
Q

Give 2 examples of primary immunodeficiencies complement defects?

A

1- C1 esterase inhibitor deficiency.
2- Complement component deficiency.

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11
Q

List 8 factors that are contribure to secondary immunodeficiency?

A

1- HIV.
2- aging.
3- heart failure, liver failure, CKD/ESKD.
4- cancer.
5- TB and other chronic infections.
6- immunosuppressive drugs.
7- dysbiosis and gut disorders.
8- malnutrition.

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12
Q

List the 4 classifications of secondary immunodeficiencies?

A

1- T cell disorders.
2- B cell defects.
3- phagocyte disorders.
4- complement disorders.

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13
Q

Give examples of secondary immunodeficiencies that affect T cell disorders?

A

1- Severe combined immunodeficiency.
2- Wiskott Aldrich syndrome (Xp11).
3- Ataxia Telangiectasia (11q).
4- DiGeorge anomaly.

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14
Q

Give examples of secondary immunodeficiencies that affect B cell defects?

A

1- XL agammaglobulinemia.
2- Common variable immunodeficiency.
3- Selective IgA deficiency,
4- AR agammaglobulinemia.
5- Hyper-IgM syndromes-XL.

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15
Q

Give examples of secondary immunodeficiencies that affect phagocyte disorders?

A

1- Chronic granulomatous disease.
2- Leukocyte adhesion defect.
3- Chediac Higashi syndrome.
4- Myeloperoxidase deficiency.
5- Cyclic neutropenia (elastase defect).

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16
Q

Give examples of secondary immunodeficiencies that affect complement disorders?

A

1- C1q deficiency.
2- Factor I deficiency.
3- Factor H deficiency.
4- Factor D deficiency.
5- Properdin deficiency.

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17
Q

Recurrent streptococcus pneumonia and haemophilus influenza infections are indicative of which type of immunodeficiency?

A

Ig, C2 or IRAK-4 deficiency.

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18
Q

Recurrent giardia intestinalis (lamblia) infections are indicative of which type of immunodeficiency?

A

Antibody deficiency syndromes.

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19
Q

Familial clustering of autoimmune disorders (e.g. SLE,pernicious anemia) are indicative of which type of immunodeficiency?

A

Common variable immunodeficiency or selective IgA deficiency.

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20
Q

Pneumocystis infections, cryptosporidiosis, or toxoplasmosis are indicative of which type of immunodeficiency?

A

T-cell disorders or occasionally Ig deficiency.

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21
Q

Viral, fungal or mycobacterial (opportunistic) infections are indicative of which type of immunodeficiency?

A

T-cell disorders.

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22
Q

Clinical infection due to live-attenuated vaccines (e.g. varicella, polio, BCG) are indicative of which type of immunodeficiency?

A

T-cell disorders.

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23
Q

Graft-vs-host disease due to blood transfusions are indicative of which type of immunodeficiency?

A

T-cell disorders.

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24
Q

Staphylococcal infections, infections with gram-negative organisms (eg. Serratia or klebsiella), or fungal infections (eg. Aspergillosis) are indicative of which type of immunodeficiency?

A

Phagocytic cell defects or hyper IgE syndrome.

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25
Q

Skin infections are indicative of which type of immunodeficiency?

A

Neutrophil defect or Ig deficiency.

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26
Q

Recurrent gingivitis are indicative of which type of immunodeficiency?

A

Neutrophil defect.

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27
Q

Recurrent neisserial infection are indicative of which type of immunodeficiency?

A

Complement deficiencies.

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28
Q

Recurrent sepsis are indicative of which type of immunodeficiency?

A

Complement deficiencies, or IgG deficiency.

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29
Q

Family history of childhood death or of infections in a maternal uncle that are similar to those in the patients are indicative of which type of immunodeficiency?

A

X-linked disorders (eg, sever combines immunodeficiency, X-linked agammaglobulinemia, Wiskott-Aldrich syndrome, Hyper-IgM syndrome).

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30
Q

Which type of immunodeficiencies are inherited defects of the immune system?

A

Primary immunodeficiencies.

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31
Q

The inherited defects of primary immunodeficiencies may be in which type of immune mechanisms?

A

The defects may be in the specific or non-specific immune mechanisms.

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32
Q

Primary immunodeficiencies are classified on the basis of what?

A

the site of lesion in the developmental or differentiation pathway of the immune system.

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33
Q

Defects in cell interaction and signaling can lead to what?

A

Lead to severe immunodeficiency.

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34
Q

List the 5 defects that SCID may result from?

A

1- JAK-3: transduces signals from the gamma chain of the cytokine receptors; the gamma chain of receptors for IL-2,4,7,9 and 15 (IL-R).
2- XLA (X linked agammaglobulinemia): results from defective transduction of activating signals from the cell-surface IgM by Burton’s tyrosine kinase (BTK).
3- the recombination-activating genes (RAG-1 and -2): required for synthesis of the functional immunoglobulins and T-cell receptors that characterize mature B and T cells.
4- expression of the class 2 MHC molecules (bare lymphocyte syndrome).
5- XHM (X linker hyper IgM syndrome): results from defects CD40L that prevent normal maturation of B cells.

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35
Q

Identical clinical conditions are caused by what?

A

Caused by mutations in different immune system genes.

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36
Q

SCID is caused by what?

A

Caused by mutation in 12 different genes.

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37
Q

Hyper IgM syndrome results from what?

A

Results from 6 different gene mutations.

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38
Q

____________ presentation of mutations in a single gene can be quite different even within the same family.

A

Phenotypic.

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39
Q

Give an example of primary immunodeficiencies where genotype does NOT equate to phenotype, and how?

A

DiGeorge syndrome;
85% of patients have exactly the same mutation, but clinical presentation is very broad.

No heart defects vs. severe congenital heart defects.
Normal immune system vs. complete absence of T cells.

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40
Q

Most primary immunodeficiencies (PID) are diagnosed in which age group?

A

Most are diagnosed in childhood - 40% are not diagnosed until adolescence or early adulthood.

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41
Q

List the 8 warning signs for PIDs?

A

1- 8 or more otitis media infections per year.
2- 2 or more serious sinus infections per year.
3- 2 or more pneumonias per year.
4- recurrent deep infections or infections in unusual areas.
5- infections with opportunistic pathogens.
6- persistent thrush in patients older than 1 year.
7- family history of PID.
8- family history of early childhood deaths.

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42
Q

What is thrush?

A

Candida infection, characterized by white, adherent, painless, discrete or confluent patches in the mouth, tongue, or esophagus.

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43
Q

Defects in cellular immunity often present with what?

A

1- opportunistic infections (pneumocystis carinii, cryptococcus, candida spp).
2- disseminated viral infections (CMV, EBV, and VSV).
3- failure to thrive, chronic diarrhea, persistent thrush.

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44
Q

Defects in cellular immunity are clinically evaluated with what?

A

1- CBC with differential, lymphocyte subsets.
2- Vaccine titers (eg, tetanus, diphtheria).
3- Ig levels (IgA, IgE, IgM, IgG).
4- T cell proliferation assay (eg, PHA, ConA, PMA/ionomycin).
5- skin testing (eg, candida protein).

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45
Q

Defects in humoral immunity often present with what?

A

1- recurrent sinopulmonary infections.
2- encapsulated bacteria (hemophilus influenza, pneumococcus spp).
3- parasitic infections (giardia).
4- some virus infections (enetrovirus, papillomavirus).
5- chronic diarrhea, poor growth,

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46
Q

Defects in humoral immunity are clinically evaluated with what?

A

1- vaccine titers (eg, tetanus, diphtheria).
2- Ig levels (IgA, IgE, IgM, IgG).
3- B cell subset analysis (eg, naive, memory, ect).

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47
Q

Defects in phagocytosis often present with what?

A

1- recurrent abscesses, abscesses in unusual areas.
2- recurrent oral ulcers.
3- severe pneumonias.
4- catalase+ organisms (eg, staph. Aureus, serratia, etc..).

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48
Q

Defects in phagocytosis are clinically evaluated with what?

A

1- CBC with differential.
2- nitroblue tetrazolium (NBT) test for production of oxygen radicals.

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49
Q

Give 2 example of non-specific immunity defects?

A

1- phagocytic cells: neutropenia, neutrophil, complement deficiency.
2- chronic granulomatous disease.

50
Q

What is the inheritance pattern of chronic granulomatous disease? And when does it present?

A

Inherited X-linked recessive disorder, presenting in the first 2 months.

51
Q

What happens in chronic granulomatous disease?

A

1- activated phagocytes cannot produce bactericidal O2 radicals.
2- impaired neutrophil killing of staphylococci.

52
Q

What are the clinical manifestations of chronic granulomatous disease?

A

Skin sepsis (staphylococci, gram-negative bacteria or fungi), abscesses, regional lymphadenopathy, hepatosplenomegaly.

53
Q

How is chronic granulomatous disease diagnosed histologically and which test is used?

A

Histology shows non-caseating giant cell granulomas.
Nitroblue tetrazolium test (NBT): precent of endotoxin stimulated neutrophils showing reduction of NBT is impaired (yellow to blue).
Chemiluminescence of neutrophils is stimulated by opsonized particles is impaired.

54
Q

List the 3 types of primary immunodeficiency based on immune cells? And give examples?

A

1- B cell (antibody): eg, common variable immunodeficiency & selective IgA deficiency.
2- T cell (cell-mediated immunity): eg, DiGeorge syndrome & chronic mucocutaneous candidiasis.
3- B & T cells (combined): eg, severe combined ID (SCID).

55
Q

List the clinical manifestations of common variable immunodeficiency?

A

1- low serum IgG, IgM, IgA (pan-hypogammaglobuliemia).
2- low antibody levels (e.coli, isochemagglutinin).
3- B cell and T cell number normal, T cell functions impaired.
4- affects adults (15-33 years); male and female.
5- lobar pneumonia, herpes zoster, diarrhea (giardia), recurrent pyogenic infection.
6- autoimmune diseases.

56
Q

List the clinical manifestations of selective IgA deficiency?

A

(1:700).
1- serum IgA low or absent but IgM normal.
2- secretory IgA is absent in mucosal secretions.
3- circulating B cells (and IgA-B cells) normal.
4- recurrent infections, atopic allergies, autoimmune disorders.

57
Q

List the clinical manifestations of Di George syndrome (thymic hypoplasia)?

A

1- caused by intrauterine damage to 3rd and 4th pharyngeal pouches and presents from brith.
2- cell mediated immunity (CMI): decreased T cells, with negative PHA or MRL response.
3- immunoglobulin levels normal (or low) but unable to make specific antibodies.
4- presents with hypoparathyroidism, cardiovascular defect, abnormal facies, recurrent infections.

58
Q

What is the treatment for Di George syndrome (thymic hypoplasia)?

A

The treatment is fetal thymic transplants.

59
Q

List the clinical manifestations of chronic muco-cutaneous candidiasis?

A

1- affects children and some with familial history.
2- CMI defect to candida.
3- candidiasis of mucosal tissues, nails and skin.
4- can be associated with endocrine abnormalities: hypothyroidism, addison’s disease, and diabetes.

60
Q

List the 5 factors that decrease production of immune components that may cause secondary (acquired) immunodeficiencies?

A

1- malnutrition (starvation, alcoholics).
2- infections (EBV, HIV).
3- drugs (corticosteroids, cytotoxic drugs).
4- malignant diseases (lymphoma, leukemia, myeloma).
5- aging.

61
Q

List the 3 factors that increase production of immune components that may cause secondary (acquired) immunodeficiencies?

A

1- protein loss enteropathy (celiac disease, crohn’s disease, ulcerative colitis).
2- nephrotic syndrome.
3- autoimmune diseases.

62
Q

What is SCID?

A

Failure of differentiations of stem cells into T and B cells and corresponding defects in infants.

63
Q

List the 2 types of SCID?

A

1- X-linked.
2- autosomal recessive (swiss type).

64
Q

Failure to thrive in SCID is because of what?

A

Chronic diarrhea, recurrent viral, bacterial, fungal and protozoal infection.

65
Q

What happens to T and B cells functions in SCID?

A

T and B cells functions are absent or decreased; lymph nodes show T and B cell depletion

66
Q

What is the treatment of SCID?

A

Bone marrow transplant.

67
Q

List 2 primary B cell immunodeficiencies?

A

1- X-linked agammaglobulinemia (Burton’s disease).
2- selective IgA deficiency.

68
Q

List 8 primary T cell immunodeficiencies?

A

1- Di George syndrome.
2- Ataxia - Telangiectasia.
3- Wiskott - Aldrich syndrome.
4- acquired immunodeficiency.
5- chemotaxis deficiency.
6- chronic granulomatous disease.
7- Chediak - Higashi syndrome.
8- leukocyte adhesion deficiency.

69
Q

Common variable immunodeficiency associated with B cells, happens because of what?

A

Mature B cells failure to differentiation into mature plasma secreting cells (antibody forming cells).

70
Q

X-linked agammaglobulinemia XLA/ Burton’s disease happens because of what?

A

Deficiency of b cell tyrosine kinase causing failure in the development of pre-B cell maturation to B cells.

71
Q

Majority of XLA patients show what?

A

Profound hypogammaglobulinemia involving all immunoglobulin classes with <1% B cells in normal peripheral blood.

72
Q

XLA is caused by mutations in the human _____ gene.

A

BTK gene.

73
Q

_____% of BTK mutations are caused by what?

A

90% are caused by single base pair substitution and insertion or deletion < 5 base pair.

74
Q

Mutation of B cell in the BTK gene will cause what in an XLA patient?

A

Mutation will cause B cells in the XLA patient remain in the pre-B stage with H chains rearranged but L chains in their germ-line configuration.

75
Q

List the 3 clinical presentations of Bruton’s disease?

A

1- increased susceptibility to encapsulated recurrent pyogenic bacteria (S.pneumonia, and pseudomonas species).
2- skin infections (group A streptococci and S.aureus).
3- persistent viral or parasitic infections.

76
Q

What is the treatment for Bruton’s disease (XLA)?

A
  • missing immune globulin is injected IV or subcutaneously throughout life.
  • antibiotics are promptly given to treat bacterial infections and may be given continuously.
77
Q

What are the clinical manifestations that patients with IgA deficiency have?

A
  • IgA levels <5mg/dL with normal levels of other Igs.
  • 50% have chronic otitis, sinusitis or pneumonia.
78
Q

IgA committed to __ lymphocytes:
Fail to _______ into IgA-secreting ______ cells caused by _____ ____ cell defect.

A

IgA committed to B lymphocytes:
Fail to mature into IgA - secreting plasma cells caused by intrinsic B cell defect.

79
Q

Patients of IgA deficiency are susceptible to what?

A

1- allergic conjunctivitis, urticaria and asthma.
2- autoimmune and neurological disorders.
3- various gastrointestinal diseases (food allergy).
4- recurrent sinopulmonary infections.

80
Q

SCID is characterized by what?

A

Deficiency in both B and T lymphocyte functions with markedly low IgG, IgA and IgE levels.

81
Q

SCID is associated with what?

A

1- children failure to thrive.
2- chronic respiratory infections.
3- gastrointestinal and/or cutaneous infections particularly recurrent viral, bacterial, fungal and protozoan infections in 5 months infants.

82
Q

SCID manifests early with what?

A

Persistent and recurrent diarrhea, otitis, thrush and respiratory infections in the first few months of life.

83
Q

T cell defects in SCID is associated with what?

A

Candidiasis, CMV infection, measles and varicella leading to life threatening pneumonia, meningitis and sepsis.

84
Q

SCID is managed through what?

A

Managed through Ig infusion, stem cell transplantation and gene replacement.

85
Q

T cell congenital disorders display what?

A

Little or no cell mediated immunity and may involve B cell deficiencies.

86
Q

Patients with T cell immunodeficiency diseases are particularly susceptible to what?

A

1- repeated fungal (candida) infection.
2- protozoan and viral infections.

87
Q

Primary T cell immunodeficiencies include what?

A

1- Di George syndrome.
2- Wiskott - Aldrich syndrome.
3- cartilage hair hypoplasia.
4- Ataxia - Telangiectasia.
5- defective expression of class 2 MHC molecules.
5- defective expression of CD3-T cell receptor (TCR) complex.

88
Q

DiGeorge syndrome congenital disorder characterized by what?

A

1- lack of embryonic developmental or underdevelopment of the 3rd and 4th pharyngeal pouches.
2- thymic hypolasia, hypothyroidism and congenital heart disease.
3- patients susceptible to uncontrolled opportunistic infections: impaired in cellular mechanisms, profound lymphopenia (T cell <1200 uL).
4- the developmental defect is associated with the deletion in the embryo of a region on chromosome 22.
5- immune defects includes a profound depression of T-cell numbers and absence of T cell responses.
6- B cells are present in normal numbers but affected individuals do not produce antibody in response to immunization with specific antigens.

89
Q

List 4 symptoms of DiGeorge syndrome?

A

1- congenital heart disorder.
2- undeveloped or no parathyroid glads (which help regulate calcium in the blood) > low levels of calcium > leading to muscle spasm (tetany) within 48 hours after birth.
3- unusual facial features, low set ears, wide-set eyes, cleft palate.
4- missing or underdeveloped thymus gland low number of T cells, limiting their ability to fight many infections.

90
Q

How do we diagnose DiGeorge syndrome?

A

1- blood tests:
- to determine total number of blood, T and B cells, evaluate how well T cells and the parathyroid glad are functioning, determine how well the body produces Igs in response to vaccines.
2- chest X-ray: to check size of the thymus gland.
3- ECG: heart defects are common with DiGeorge.
4- chromosomal test: to look for abnormalities.

91
Q

List the 3 types of treatment of DiGeorge syndrome?

A

1- children who have some T cells.
2- Children who have no T cells.
3- when the heart disease is worse than the immunodeficiency (we do surgery to prevent severe heart failure or death).

92
Q

What is the treatment for DiGeorge for children who have some T cells?

A

Their immune system may function adequately without treatment.
Calcium and vitamin D supplements are given orally to prevent muscle spasms.

93
Q

What is the treatment for DiGeorge for children who have no T cells?

A

The disorder is fetal unless transplantation of thymus tissue is done.
Stem cell transplantation may be done.

94
Q

What is the inheritance pattern of Ataxia-Telangiectasia?

A

Hereditary disorder (autosomal recessive)

95
Q

What are the defects in Ataxia-Telangiectasia?

A

The defects arise from a breakage in chromosome 11 at the site of TCR and Ig heavy chain genes.
Patients have defective mechanisms of DNA repair and are predisposed to leukemia and lymphomas.

96
Q

What is the primary defect in Ataxia-Telangiectasia?

A

Kinase involved in regulation of the cell cycle.

97
Q

What are the characteristics of Ataxia-Telangiectasia?

A

Leads to malfunction of B and T cells.
Low levels of IgA and IgE.
IgA is considerably reduced (in 70% of the cases).
Characterized by incoordination (Abnormalities in the cerebellum result in loss of coordination), dilated capillaries, and an immunodeficiency.

98
Q

List 6 symptoms of Ataxia-Telangiectasia?

A

1- intellectual disability.
2- capillaries in the skin and eyes become dilated and visible between ages of 1 and 6.
3- endocrine system may be affected, results in small testes, infertility, and diabetes.
4- sinus and lung infections.
5- increased risk of cancers (especially leukemia, lymphoma, brain tumors, and stomach cancer).
6- progresses to paralysis, dementia, and death, typically by age 30,

99
Q

How do we diagnose Ataxia-Telangiectasia?

A

Blood tests to measure the levels of IgA and genetic tests, help confirm the diagnosis.

100
Q

What is the treatment of Ataxia-Telangiectasia?

A

1- antibiotic and Igs to help prevent infections.
2- these drugs don’t relieve the other problems.

101
Q

What is the inheritance pattern of Wiskott-Aldrich syndrome (WAS)?

A

X-linked recessive disorder.

102
Q

Wiskott-Aldrich syndrome (WAS) is associated with what?

A

Thyrombocytopenia and eczema.

103
Q

Patients with WAS have what?

A

1- elevated IgA and IgE.
2- low IgM.

104
Q

Variable T cell dysfunction of WAS is manifested by what?

A

1- severe herpex virus and pneumocystis carinii infections.
2- increased lymphomas and autoimmune disease.
3- recurrent pyogenic bacterial infections.
4- usually affecting ears, sinuses and lungs.

105
Q

WAS is characterized by what?

A

An abnormal antibody (Ig) production, T-cell malfunction, a low platelet count (platelets are small and malformed, the spleen removes and destroys them, causing the platelet count to be low) and eczema.

106
Q

WAS results from which mutation?

A

A mutation in a gene of the X chromosome, which codes for a protein needed by T and B cells to function.

107
Q

WAS usually affects which gender?

A

Only boys.

108
Q

What does the defect in WAS involve?

A

The defect WAS involves a cytoskeletal glycoprotein present in lymphoid cells called “sialophorin (CD43)”. The WAS protein is required for assembly of actin filaments required for the formation of microvesicles and required for B, T and platelet function.

109
Q

List 5 symptoms of WAS?

A

1- bleeding problems because of low platelet count, usually bloody diarrhea, may be the first symptom.
2- susceptibility to viral and bacterial infections, particularly of the RTI is increased.
3- the risk of developing cancers (such as lymphomas an cancers).
4- risk of autoimmune disorders (such as hemolytic anemia, IBS, and vasculitis).
5- life expectancy is shortened.

110
Q

What is the treatment of WAS?

A

1- stem cell transplantation, necessary to preserve life. Without it, most die by age 15.
2- antibiotic are given continuously to prevent infections, and Ig is given to provide the missing Abs.
3- an antiviral drug (Acyclovir) is given to prevent viral infections.
4- platelet transfusions are given to relieve bleeding problems.

111
Q

What is the inheritance pattern of chronic granulomatous disease?

A

X-linked recessive, sometimes also inherited as an autosomal recessive disorder.

112
Q

What happens in chronic granulomatous disease?

A

Phagocytes malfunction.
They can ingest but cannot produce the substances (such as hydrogen peroxide and superoxide) that kill certain bacteria and fungi.

113
Q

List symptoms of chronic granulomatous disease?

A

1- chronic infections occur in the skin, lungs, lymph nodes, mouth, nose, urinary tract, and intestines.
2- abscesses can develop around the anus and in the lungs and liver.
3- children may grow slowly.

114
Q

How do we diagnose chronic granulomatous disease?

A

1- blood tests - measures the activity of phagocytes in response to microorganisms.
2- genetic tests - check for the specific mutations that cause this disorder.

115
Q

What is the treatment for chronic granulomatous disease?

A

1- antibiotics (trimethoprim/ sulfamethoxazole) given regularly to prevent infections.
2– antifungal (itraconazole) given regularly to prevent fungal infections.
3- interferon gamma, injected 3 times a week, reduce the number and severity of infections.
4- transfusions of granulocytes can be lifesaving.
5- stem cell transplantation has cured some people.

116
Q

What is the inheritance pattern of Chediak-Higashi syndrome?

A

Very rare autosomal recessive disorder.

117
Q

What is the defect in Chediak-Higashi syndrome?

A

Patients are more susceptible to infections because phagocytes do no function normally.
The defect is a mutation in a protein (LYST) involved in the regulation of intracellular trafficking.
The mutation impairs the targeting of proteins to secretory lysosomes which makes them unable to lyse bacteria.

118
Q

List symptoms of Chediak-Higashi syndrome?

A

1- albinism.
2- vision problems: acuity, photosensitivity, nystagmus.
3- infections in the respiratory tract, skin, and membranes lining the mouth.
4- fever, jaundice, an enlarged liver and spleen, swollen lymph nodes, and a tendency to bleed and bruise easily. It can also affect the nervous system.
5- respiratory burst is normal.

119
Q

What is the inheritance pattern in leukocyte adhesion deficiency?

A

Autosomal recessive disorder.

120
Q

What happens in leukocyte adhesion deficiency?

A

WBCs don’t function normally.
WBCs are lacking a protein on their surface, so they are less able to travel to sites of infection and to kill and ingest bacteria and other foreign invaders.

121
Q

What is the defect in leukocyte adhesion deficiency?

A

Cell surface molecules belonging to the intergrin family of proteins function as adhesion molecules are required to facilitate cellular interactions.
Three of these, LFA-1, Mac-1 and gp150/95 (CD11a, b and c, respectively) have a common chain (CD18) and are variably present on different monocytic cells; CD11a is also expressed on B cells.
An immunodeficiency related to to dysfunction is rooted in a defect localized to the common chain and affects expression of all WBC.

122
Q

List symptoms of leukocyte adhesion deficiency?

A

1- in severely affected infants, infections develop in soft tissues, such as the gums, skin, and muscles. No pus forms. Infections become difficult to control.
2- wounds do not heal well.
3- umbilical cord is slow to fall off, taking 3 weeks or more after birth (normally, it falls off in 1 or 2 weeks after birth).
4- most children with severe disease die by age 5.

HD (14 decks)

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