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Path Immunology > Primary Immune Deficiencies > Flashcards

Primary Immune Deficiencies Flashcards

1
Q

Selective IgA Deficiency - what type of infections? epidemiology?

A

Most Common defiency Recurrent gastro and resp infections affects 1/600 Caucasians but 70% are asymptomatic

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2
Q

Complement Deficiencies - Treatment?

A

Vaccination, prophylactic Abx, high levels of suspicion, screen family members

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3
Q

Leukocyte Adhesion Deficiency- what is it? deficiency in?

A

Failure to express leukocyte adhesion markers. Deficiency of the beta-2 integrin subunit (CD18) of the Leukocyte adhesion molecule in LAD1 LAD2 is much rarer and has severe growth restriction and mental retardation

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4
Q

B cell deficiencies - Consequences

A

Increased susceptibility to bacterial and some viral infections and toxins (tetanus, diphtheria)

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5
Q

Cyclic Neutropenia - what causes it?

A

caused by mutations in the ELA1 gene

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6
Q

Kostmann Syndrome - Treatment?

A

Treatment includes G-CSF, prophylactic antibiotics and BMT if G-CSF is ineffective

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7
Q

IgM immunity?

A

on surface of B cells

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8
Q

Chronic Granulomatous Disease - associated diseases?

A

PLACESS Pseudomonas Listeria Aspergillus Candida E. coli Staph aureus Serratia patients can resist catalase-negative bacteria

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9
Q

Severe Combined Immune Deficiency (SCID) - defect in? blood results?

A

defect in lymphoid precursors (IL2-R), leading to low or normal B cells, reduced T cells and low antibodies

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10
Q

DiGeorge’s Syndrome - what is it?

A

Impaired development of the 3rd and 4th pharyngeal pouches (oesophagus, thymus, heart)

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11
Q

Hyper-IgM Syndrome - chromosome? defect in? how does it cause symptoms?

A

X-Linked Condition - Xq26 CD40L, CD40, AlCDA or CD154 defect Activated T cells can’t interact with B-cells to class switch therefore B cells can’t make IgA and IgG but instead IgM levels increases

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12
Q

T cell deficiencies - Consequences

A

Increased susceptibility to viral, fungal and bacterial infections and early malignancy

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13
Q

Common Variable Immune Deficiency - signs/symptoms/diagnosis

A

Frequent infections during early life, increased incidence of autoimmune or inflammatory manifestations, granulomata and increased susceptibility to cancer. Both males and females can get the deficiency, most likely to be diagnosed in 3rd/4th decade of life although 20% are found to be immunodeficient in childhood

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14
Q

Cyclic Neutropenia - Treatment

A

Treat with G-CSF

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15
Q

Brutons Agammaglobinemia - symptoms and age of onset?

A

recurrent and severe bacterial infections from 3-6 months old when maternal IgG denature. Most common infections are • Ear infections • Sinusitis • Pneumonia • Diarrhea due to a parasite called Giardia

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16
Q

Ig half life?

A

18 days

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17
Q

2 syndromes of T cell deficiencies?

A

Bare Lymphocyte Syndrome DiGeorge’s Syndrome

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18
Q

Common Variable Immune Deficiency - Ig levels? cause?

A

Low IgG, IgE and IgA many genetic causes

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19
Q

Complement Deficiencies - Lectin Pathway Deficiency

A

Very common, 10% are MBL deficient. Not so clinically important

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20
Q

IgG immunity?

A

can cross from placenta to foetus

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21
Q

IgA immunity?

A

Mucosal areas, saliva, tears, breast milk

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22
Q

Reticular Dysgenesis - is a form of what deficiency? causes a deficiency in what? treatment?

A

most severe form of SCID (Severe Combined Immune Deficiency) (AK2) Causes an absolute deficiency in Neutrophils, Lymphocytes, Monocytes/ Macrophages, Platelets Fatal in v. early life unless treated by BMT

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23
Q

Kostmann Syndrome - what is it? dominant or recessive? prevalence?

A

A severe congenital neutropenia (increased risk of infection) Mainly Autosomal Recessive (HAX-1) 1-2cases per million

24
Q

Chronic Granulomatous Disease - treatment?

A

Treatment involves prophylactic Trimethoprim and Itraconazole and Interferon. Sometimes use stem cell transplant

25
Q

DiGeorge’s Syndrome - what chromosome?

A

deletion of 22q11.2

26
Q

Chronic Granulomatous Disease - what test is used to diagnose?

A

Negative Nitro-Blue Tetrazolium (NBT) test. NBT is a dye that changes colour from yellow to blue following interaction with hydrogen peroxide. Also use Dihydrorhodamine (DHR) flow cytometry test. DHR is oxidised to rhodamine, which is strongly fluorescent, following interaction with hydrogen peroxide

27
Q

B cell deficiencies - Treatment

A

Ig replacement BMT in some situations vaccination (not effective except in IgA deficiency)

28
Q

Leukocyte Adhesion Deficiency - features of disease

A

High neutrophil count and delayed umbilical cord separation

29
Q

Which cytokines/receptors can we be deficient in? What are these molecules all involved in?

A

Deficiencies in IFN-gamma, IFN-gamma receptor, IL-12 and IL_12 receptor. all involved in signalling between T-cells and macrophages to stimulate TNF and activate NADPH oxidase

30
Q

4 Phagocyte deficiencies?

A

Kostmann Syndrome Leukocyte Adhesion Deficiency Chronic Granulomatous Disease Cyclic Neutropenia

31
Q

Kostmann Syndrome - when? diagnosis?

A

infections start shortly after birth Diagnosis based on chronically low neutrophil count and bone marrow test showing an arrest of neutrophil precursor maturation

32
Q

Bare Lymphocyte Syndrome (BLS) is a defect in what?

A

Regulatory Factor X or Class 2 transactivator

33
Q

Hyper-IgM Syndrome - presentation

A

Boys present first years of life with recurrent bacterial infections especially Pneumocystis carinii and failure to thrive. Increased risk of autoimmunity and malignancy

34
Q

Complement Deficiencies - Classical Pathway Deficiency. Associated with? What test is abnormal?

A

Involves lack of C1q/r/s, C2 is the commonest and C4 Associated with SLE as classical pathway involved in removing immune complexes CH50 test is abnormal

35
Q

Phagocyte deficiencies - Consequences?

A

Increased susceptibility to bacterial and fungal infections, often with deep abscesses

36
Q

Severe Combined Immune Deficiency (SCID) - symptoms?

A

recurrent infections - Failure to thrive and persistent diarrhoea and early infant death

37
Q

Complement Deficiencies - Consequences?

A

Increased susceptibility to encapsulated bacterial infections

38
Q

Cytokine Deficiencies - associated infections..

A

predisposed to infections caused by Salmonella, atypical Mycobacteria, TB and BCG. Patients are unable to form granulomata

39
Q

Cyclic Neutropenia - what is it?

A

Episodic neutropenia occurring every 3 weeks and lasting several days

40
Q

IgE immunity?

A

Allergy - Histamine released from Mast cells

41
Q

What disease is BLS associated with?

A

Sclerosing Cholangitis (uncommon chronic liver disease in which the bile ducts inside and outside the liver progressively decrease in size due to inflammation and scarring (fibrosis)

42
Q

Bare Lymphocyte Syndrome (BLS) 7 main symptoms and age of onset?

A

Persistent diarrhea Malabsorption Mucocutaneous candidiasis Upper respiratory tract bacterial infection Lower respiratory tract bacterial infection Failure to thrive Fatigue unwell by 3months of age

43
Q

Leukocyte Adhesion Deficiency - Treatment

A

BMT is treatment of choice

44
Q

Mixed B and T cell deficiency?

A

SCID

45
Q

DiGeorge’s Syndrome - physical features, blood test results

A

Low set ears, cleft lip and palate Low Calcium, Low number of mature T cells Sesceptible to viral infections

46
Q

Severe Combined Immune Deficiency (SCID) - X linked?

A

45% are X-linked

47
Q

Bare Lymphocyte Syndrome (BLS) is the absent expression of…?

A

HLA molecules within the thymus causing lymphocytes to fail to develop

48
Q

T cell deficiencies - Treatment

A

Infection prophylaxis Ig replacement if necessary specific other treatments

49
Q

Complement Deficiencies - Common and Terminal Pathway Deficiency Associated with? whats abnormal?

A

Involves lack of C3, 5-9 Susceptibility to bacterial infections (Meningitis/Pneumoniae) May be associated with membranoproligerative glomerulonephritis. Cannot form MAC to kill bacteria, Both CH50 and AP50 abnormal

50
Q

What are the different types of Bare Lymphocyte Syndrome? Which cells are depleted in each type?

A

Type 1 - MHC I absent - decreased CD8 cells Type 2 - MHC II absent - decreased CD4 cells (more common) B-cell class switch needs CD4 therefore less IgA and IgG made

51
Q

Chronic Granulomatous Disease - what is it? defect in?

A

Failure of oxidative killing - defect of NADPH oxidase leading to reduced reactive oxygen species Due to many mutations, mostly X-linked

52
Q

Severe Combined Immune Deficiency (SCID) - treatment

A

BTM only established treatment

53
Q

DiGeorge’s Syndrome - Treatment?

A

Thymus Transplant

54
Q

Bruton’s Agammaglobinemia - defect and mutation in? leading to a failure to produce..?

A

X- linked Tyrosine Kinase Defect Mutation in BTK gene Fail to produce mature B-cells and no antibodies

55
Q

Complement Deficiencies - Alternative Pathway Deficiency what infections do they get? what test is abnormal?

A

Involves Factors B/I/P infections with Encapsulated bacteria such as -Streptococcus pneumoniae (Pneumococcus) -Group B streptococcus Haemophilus influenza -Neisseria meningitides (Meningococcus) alternative pathway only involved in killing bacteria AP50 test is abnormal

Path Immunology (8 decks)

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