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HDID > Diseases > Flashcards

Diseases Flashcards

1
Q

Chronic Granulomatosus Disease (CGD)

A
  • defect in NADPH oxidase
  • phagocytes fail to produce adequate levels of oxygen radicals and hydrogen peroxide upon phagocytosis of microbes
  • early onset 2-5 years
  • granulomas in the skin, GI tract, and GU tract
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2
Q

Chediak-Higashi Syndrome

A
  • abnormal fusion of phagosomes with lysosomes
  • failure to kill ingested microbes due to impaired myeloperoxidase
  • pyogenic infections
  • abnormal function of platelets leading to bleeding
  • hypopigmentation
  • progressive neurologic dysfunction
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3
Q

Leukocyte Adhesion Deficiency

A
  • group of disorders where interaction of leukocytes with vascular endothelium is disrupted
  • Type 1: defect in LFA-1/CD18 - typically die by age 2
  • Type 2: fucosyltransferase mutation resulting in the loss of the carbohydrate ligand for P-selectin and E-selectin in leukocytes - better survival than type 1
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4
Q

Complement System Abnormalities

A
  • most common is C8 deficiency

- increased frequency of Neisseria infection because no formation of MAC

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5
Q

IRAK-4 Deficiency

A

-defect in a key enzyme in TLR signaling resulting in recurrent bacterial infections (mostly gram +)

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6
Q

TLR polymorphisms

A

-increased sensitivity to certain infections

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7
Q

C3 Deficiency

A
  • loss of opsonization and MAC is not able to form

- pyogenic infections, especially Staph and Neisseria

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8
Q

C1 Inhibitor (C1INH) deficiency

A
  • lose of C1 and kallikrein regulation; kininogen is cleaved to release bradykinin
  • causes Hereditary Angioedema
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9
Q

CD59 deficiency

A
  • no inhibition of MAC
  • Hemolysis and thrombosis
  • Paroxysmal Nocturnal Hemoglobinuria
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10
Q

C1qrs, C4, C2

A
  • lose classical complement pathway

- Systemic Lupus Erythematosus (SLE)

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11
Q

Factor H and Factor I deficiency

A
  • C3 deficiency

- infections, inflammation, macular degeneration, and atypical Hemolytic Uremia Syndrome (aHUS)

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12
Q

AHUS

A
  • Factor H/Factor I deficiency
  • hemolysis of RBCs, thrombosis
  • shistocytes
  • low hemoglobin
  • thrombocytopenia
  • abnormal kidney function
  • treat with blood transfusions, fluid electrolytes, dialysis, or Eculizimab
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13
Q

Heterozygotes for DQ2 and DQ8

A

-increased incidence of IDDM

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14
Q

Ankylosing Spondylitis

A

-HLA allotype B27 has 150 times relative risk

-

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15
Q

Class II MHC deficiency

A
  • congenital deficiency where no MHC II molecules are made

- can also have mutations in transcription factors that block the production of MHC II

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16
Q

Class I MHC deficiency

A
  • tapasin mutation
  • TAP mutation
  • Beta 2 microglobulin mutations
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17
Q

Celiac Disease

A
  • associated with DQ2 allotype
  • transglutaminase of gliadin peptide and activation of gliadin specific T cells
  • activation of plasma cells and other lymphocytes gives abdominal discomfort/pain
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18
Q

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy Syndrome (APECED)

A
  • AIRE mutation; a transcription factor responsible for the expression of many ectopic antigens in the thymic medulla
  • Endocrinopathy
  • Mucocutaneous candidiasis
  • Alopecia and keratinitis
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19
Q

Immune Dysfunction polyendocrinopathy enteropathy X-linked syndrome

A
  • Fox3p mutation; important in the development of Treg helper T cells
  • enteropathy (IBD)
  • Type 1 diabetes
  • Eczema
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20
Q

Hemophagocytuc Lymphohistiocytosis (HLH)

A
  • perforin deficiency
  • genetic or acquired
  • high serum levels of IFN, TNF, IL-6, IL-10
  • Symptoms: fever, splenomegaly, haemophagocytosis, hypertriglyceridemia, and hypofibrinogenemia
  • attempt to treat with anti INF monoclonal antibodies
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21
Q

Rheumatoid Arthritis

A
  • inflammation within the synovial membrane leading to infiltration of WBC
  • typically due to INF and TNF-alpha
  • increased angiogenesis, articular cartilage degradation, and bone erosion
  • treat with glucocorticoids to prevent inflammation or anti-INF monoclonal antibodies
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22
Q

Muckle Wells Syndrome

A
  • mutation in NALP3
  • moderate low grade fevers/rashes in infancy
  • joint pains, significant hearing loss in adolescent, may develop amyloidosis and kidney failure
  • triggered by cold, stress, or unknown factors
  • one of a group of related diseases, CAPS, cryopyrin associated periodic syndrome
23
Q

type I hypersensitivity

A
  • IgE mediated mast cell activation
  • immediate hypersensitivity upon second exposure to allergen
  • Examples: allergic rhinitis, hay fever, food allergies, bronchial asthma, anaphylaxis
24
Q

Type II Hypersensitivity

A
  • IgM/IgG mediated antibody against cell surface or extracellular matrix proteins
  • Glomerulonephritis in Goodpasture Syndrome
  • Pemphigus Vulgaris
25
Q

Type III Hypersensitivity

A
  • Immune complex mediated
  • Immune complex consisting of IgG or IgM and the antigen
  • SLE, Serum sickness, vasculitis
26
Q

Type IV Hypersensitivity

A
  • T cell mediated, delayed type hypersensitivity (Th1 cells)
  • Tuberculosis, Leprosy, Leishmaniasis, IBD, poison ivy, nickel contact, RA, IDDM, MS, Wegener’s Granulomatosis, Toxic Shock syndrome
27
Q

Transient Hypoglobulinemia of Infancy

A
  • loss of materanl Igs and failure to produce adequate levels of IgG (typically occurs 3-6 months)
  • treat infections as needed, but do not give IvIgs
  • deficiency will resolve on its own as the immune system develops, but if not, consider alternative diseases such as Bruton’s Disease
28
Q

Common Variable Immunodeficiency

A
  • most prevalent immunodeficiency
  • manifests at any time from infancy to 40 years old
  • normal to low peripheral B cells, but NO plasma cells leading to variable low Igs
  • recurrent infections and predisposition to autoimmune disease/malignancy
  • treat with IvIg therapy or bone marrow transplant
  • etiology unknown
29
Q

Bruton’s Agammaglobulinemia

A
  • X-linked agammaglobulinemia (XLA)
  • x-linked
  • defect in Bruton’s tyrosine Kinase gene
  • B lymphocytes unable to differentiate and therefor no Igs produced; T cells are normal
  • Recurrent pneumoni, sepsis, diarrhea
  • bone marrow treatment is the best option
30
Q

IgA Deficiency

A
  • low serum IgA
  • autosomal inheritance
  • pulmonary and GI infections are common
  • May react to IgA serum during transfusions so always check
  • depending on severity of symptoms, patient may not know they have this
31
Q

X-linked Lymphoproliferative Syndrome (Duncan’s Disease)

A
  • x-linked
  • defect in SH2D1A gene that encodes SAP proteins
  • rare defect in the immune response to Epstein Barr Virus
  • results in infectious mononucleosis, hypogammaglobulinemia, and B cell lymphomas
  • fail to make anti-EBV antibody, defective cytokine production, and low CD4/CD8 ratio
32
Q

DiGeorge Syndrome

A

-sporadic disturbed development of 3rd/4th pharyngeal pouches leading to deletion in chromosome 22
Cardiac defects

Abnormal facial features - micrognathia, hypertelorism

Thymic aplasia -no T cells produced; low Igs becuase no T/C cell interaction

Cleft palates

Hypothyroidism/hypoparathyroidism - hypocalcemia leading to tetany

22

33
Q

Chronic Mucocutaneous Candidiasis

A
  • T cell dysfunction against candidiasis (fungal infection)
  • candidial infections in skin, nails, mucus membranes
  • IL17 and IL-17R deficiencies
34
Q

Hyper IgM type 1

A
  • CD40L/CD40
  • X-linked
  • failure of immunoglobulin isotype switching due to B cells not receiving T cell interaction
  • No germinal centers formed
  • Normal T/B cells; hyper IgM, all other Igs low
35
Q

Hyper Igm Type 2

A
  • AID deficiency
  • autosomal recessive
  • Large germinal center
  • Normal T/B cells; hyper IgM, all other Igs low
36
Q

SCID-ADA deficiency

A
  • adenosine deaminase deficiency
  • autosomal recessive - accumulation of toxic metabolites to T/B cells
  • Pseudochondrodysplasia - defect in cartilage
37
Q

SCID-PNP deficiency

A
  • purine nucleoside phosphorylase deficiency
  • build up of toxic metabolites to T cells but not B cells
  • reduced T cells; normal B cells, but Ig production is low do to lack of stimulation by T cells
38
Q

SCID-Reticular Dysgenesis

A
  • mitochondrial adenylate kinase 2 deficiency
  • most severe form of SCID
  • no T-cells, no B-cells, no granulocytes
  • often born still born or die shortly after birth
39
Q

X-linked SCID

A
  • Bubble Boy syndrome
  • x-linked
  • lack of common gamma chain
  • T cells reduced
  • Normal B cells but low Igs
40
Q

Bare Lymphocyte Syndrome

A

-deficient in either MHC I or MHC II molecules

41
Q

Jak 3 SCID mutation

A
  • few T cells

- normal B cells, but low Igs

42
Q

Omenn Syndrome

A

–autosomal recessive SCID
-mutation in Rag1/Rag2/Artemis
-oligoclonal autoreactive T cells producing IL-4
-Hyper IgE
Symptoms: erythroderma and desquamation of skin, allopecia, lymph node enlargement,
-treatment with allogeneic bone marrow transplant
-If artemis mutation, radiosensitive and must not X-ray since they are predisposed to cancers
-occurs early in life unlike Job Syndrome

43
Q

Job Syndrome

A
  • autosomal dominant mutation of STAT3
  • occurs later in life unlike Omenn Syndrome which occurs early in life
  • hyper IgE
  • recurrent infections
  • Coarse facial features, skin abscesses, dental problems
44
Q

Wiskott-Aldrich Syndrome

A
  • X-linked recessive
  • defect in Wiskott Aldrich Syndrome protein (WASp)
  • triad: thrombocytopenia, immunodeficiency, eczema
  • always a T cell deficit; poor response to polysaccharide antigens such as flu, streptococcus, staph
  • Symptoms: bleeding diarrhea, petechia, ecchymosis, skin/oral mucosal infections
  • rarely survive childhood
45
Q

Ataxia-Telangiectasia (A-T)

A
  • autosomal recessive
  • defect in ataxia telangiectasia
  • Ataxic movements, dysarthric speech, choreoathetosis, ocular teangiectasia (dilated blood vessels of eye, spider angiomas
  • Radiosensitive like Artemis mutation in Omenn syndrome
  • Effects both T and B cells
  • decreased IgA
46
Q

Insulin Dependent Diabetes Mellitus (IDDM)

A
  • autoreactive T cells against pancreatic Beta cell antigens (insulin, glutamic acid, etc) leading to the destruction of Islet Beta cells
  • Type IV hypersensitivity
47
Q

Multiple Sclerosis

A

-Autoreactive T cells against myelin basic protein or proteolipid protein leading to brain invasion by CD4+ cells, destruction of myelin, and paralysis

48
Q

Goodpasture’s Disease

A
  • autoantibodies (IgG) against glomerular basement membrane (collagen Type IV)
  • reacts with glomerular and alveolar basement membrane
  • bloody urine, decreased urine output, hemoptysis, nonspecific chest pain
  • linear smooth distribution of antibody immunofluoresence
  • Type II hypersensitivity
49
Q

Myasthenia Gravis

A
  • autoantibodies (IgG) against the acetylcholine receptor
  • Activation of complement plays a major role in mediating cell injury
  • loss of membrane surface area, fibrotic repair of membrane tissue, internalization of cross linked AchR
  • usually young women
  • Muscle Weakness worsening with muscle use
  • Ptosis
  • diploplia
  • misaligned gaze
  • thymectomy scar
  • Type II Hypersensitivity
50
Q

Graves’ Disease

A
  • antibodies against TSH receptor formed
  • Type II Hypersensitivity
  • Goiter
  • Exopthalmos/proptosis
  • Hyperthyroidism
  • Low TSH and high Thyroid hormone
  • Treat with anti-thyroid drugs
51
Q

Hashimoto Thyroiditis

A
  • combined Type II and Type IV hypersensitivity
  • autoantibodies directed at thyroglobulin and thyroid peroxidase
  • Intense mononuclear infiltrate destroying thyroid
  • Hypothyroidism
  • Goiter
  • Treat with Thyroxine
52
Q

Systemic Lupus Erythematosus (SLE)

A
  • Type III hypersensitivity
  • Anti-Nuclear Antibodies formed; Anti-dsDNA and Anti-Smith confirm lupus diagnosis
  • Malar Rash - AA see bumps
  • Photosensitivity
  • Discoid Rash
  • homogenous pattern of nuclear staining (sometimes speckled too)
  • antibody staining ring formation
53
Q

Scleroderma

A
  • Type II and Type IV hypersensitivity
  • Autoantibodies against: topoisomerase 1 (most severe), RNA transcription factors, centromere
  • Nucleolar staining pattern with autoantibody
  • Autoimmunity, Small vessle obliterative disease, Fibrosis
  • radial furrows of mouth, scattered telangiectasia, tight skin
  • Raynaud’s phenomenon
  • Digital Ulcers
  • systemic involvement
  • CREST syndrome if anti-centromere antibody produced
54
Q

Rheumatoid Arthritis

A
  • mixed Type II, III, and IV hypersensitivity
  • antibodies against own antibodies
  • Rheumatoid Factor - Anti-IgG
  • Anti-citrullinated protein antibody, diagnostic when RF is negative
  • Autoreactive T cells react against unknown synovial joint antigens
  • HLA-DR4 association
  • Synovial Pannus
  • Joint inflammation/breakdown
  • Treat with NSAIDS, biologics (anti TNFs), methotrexate

HDID (5 decks)

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