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immunodeficiency Flashcards

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1
Q

Immunodeficiency meaning

A

failure or absence of elements of the immune system, including lymphocytes, phagocytes, and the complement system

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2
Q

immunodeficiency can be divide into?

A

Immunodeficiencies can be primary or secondary

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3
Q

What is PID ?

A

Prevalence: Primary (congenital) 1: 10,000 to 1: 200,000 present at birth
PID: intrinsic defects in cells of the immune system (genetic)

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4
Q

What is SID

A

Secondary (acquired) is more common.
SID: acquired, loss of immune function due to exposure to drugs (steroids,
Cyclosporin A, cytotoxic drugs) / biological agents (HIV)
• Specific immunodeficiency = abnormalities of B / T cells
• Non-specific = abnormalities of non-specific immunity (complement,phagocytosis)

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5
Q

Clinical Manifestation
(the patient is considered to have I.D if the infection are :

A

1.Frequent and severe
2.caused by opp infection
3.resistant to antimicrobial therapy

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6
Q

Classification primary ID

A

Genetic mutation/ polymorphism➡️ monogenic or polygenic

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7
Q

Classification secondary ID

A

malnutrition/ viral and bacterial infection/immunosuppresive drug/excessive protein loss, burns or nephrotuc syndrome

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8
Q

causes primary immunodeficiency

A

-infections
-allergy
-cancer
-autoimmunity
-autoinflammation

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9
Q

causes secondary immunnodeficiency

A

-malnutrition
-infectious disease,HIV
-environmental stress
-age extremes
-surgery or trauma
-immunosuppresive drug
-genetic disease

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10
Q

symptoms ID

A

• Fever and chills
• Loss of appetite and weight
• Enlargement of the spleen and liver causes abdominal pain
• Failure to thrive in case of infants and younger children
• Chronic diarrhea
• Pneumonia or other bacterial and yeast infections

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11
Q

Primary Immunodeficiency diseases (inducement,age and pathogenesis)

A

• Inducement: heredity, developmental defect
• Age:infancyandchildhood
• Pathogenesis: differentiation & development of hemopoietic stem cells
• Most of these diseases are inherited recessive disorders many are X-linked (M>F)
• abnormality at the initial stage of haemopoietic development (Severe ID)
• later stages usually lead to more specific deficiency of cellular or humoral
• Humoral immunity deficiency
• Cellular immunity deficiency
• Combined immunodeficiency diseases
• Nonspecific immunodeficiency diseases

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12
Q

Warning signs for PIDs

A

• 8 or more otitis media infections per year
• 2 or more serious sinus infections per year
• 2 or more cases of pneumonia per year
• recurrent deep infections or infections in unusual areas
• infections with opportunistic pathogens
• persistent thrush in patients older than 1 year • family history of PID
• family history of early childhood deaths

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13
Q

Humoral immunodeficiencies ( B cell defect

A

• X-linked agammaglobulinemia(XLA)
• Transient hypogammaglobulinemia of infancy
• Common variable immunodeficiency
• Selective immunoglobulin deficiencies(IgA)
• Immunodeficiencies with hyper-IgM
• Transcobalamin II deficiency

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14
Q

Cellular immunodeficiencies ( T cell defect )

A

• Thymic Hypoplasia (DiGeorge syndrome)
• Chronic mucocutaneous candidiasis
• Purine nucleoside phosphorylase (PNP) deficiency
• Biotin-dependent multiple cocarboxylase deficiency
• N K cell deficiency
• Idiopathic CD 4 lymphopenia

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15
Q

Combined immunodeficiencies (B & T cell)

A

• Cellular immunodeficiency with abnormal immunoglobulin (Nezelof syndrome )
• Ataxia telangiectasia
• Wiskott-Aldrich syndrome
• Severe combined immunodeficiencies (SCID)

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16
Q

Disorders of non-specific immunity

A

Disorders of phagocytosis:
• Chronic granulomatous disease

Disorders of complement
• Complement component deficiencies
• Complement inhibitor deficiencies

17
Q

HUMORAL IMMUNITY DEFICIENCY (features and pathogenesis)

A

It causes a deficiency of Ig and antibody
Features:
-increased susceptibility to bacteria, enterovirus,
-intestine parasites delayed in growth and development
- increased incidence of autoimmune diseases, malignant tumours
- reduced numbers of peripheral blood B cells
-absent or reduced levels of Ig.

Pathogenesis: Block of differentiation & development of B cells, reduced function of Th cells

18
Q

X-linked agammaglobulinemia (XLA)
feature, pathogenesis

A

Genetic features: x-linked recessive inheritance, males.
• Btk gene
• Located on the X chromosome.
• 19 exons over a length of DNA of 37 kilobases.
• Function - BCR signalling and Without Btk pre-B cells fail to develop into
mature B cells.

Pathogenesis: block in differentiation & development of the pre-B cells.
• Recurrent serious infections with pyogenic bacteria, pneumococci, streptococci,
meningococci, Pseudomonas & H influenzae.
• Live microbial vaccines should not be given to children.

• Immunological features: Results in an absence or severe reduction in B
lymphocytes & Ig of all types.

19
Q

clinical manifestation X-linked agammaglobulinemia

A

• Sites of infection: mucous membranes, ear, lungs, blood, gut, skin, eyes, meningitis.
• Also seen joint problems, kidney problems, neutropenia, and malignancy in older patients.
• Tonsils & adenoids are atrophic.
• Lymph Node biopsy: depletion of bursa-dependent areas
• Plasma cells & germinal centers absent even after antigenic stimulation—No Ab
formation
• Marked decrease in the proportion of B cells in circulation. (CMI not affected)
• Delayed hypersensitivity of tuberculin & contact dermatitis types

20
Q

treatment X-linked agammaglobulinemia

A

TREATMENT
-Intravenous Immunoglobulin
- whole plasma infusion

21
Q

Selective immunoglobulin deficiencies
(immunological, genetic and patho n c/f)

A

• Isolated IgA deficiency
• Immunological : Serum IgA<5mg/dl but normal IgM and IgG
• Genetic : IgA Deficiency and genetic factors: association with HLA-A2,
B8 and DW3 or A1 and B8.
• Pathogenesis: failure in terminal differentiation of B cells due to
intrinsic B cell defect or abnormal T cell help (TGF-B, IL-5) or in B cell
responses to these cytokines
• C/F: atopic disorders
• Recurrent infections-respiratory, alimentary canal, urogenital

22
Q

Immunodeficiency with hyper IgM

A

• Immunological: increased level of IgM (10 mg/ml )decreased other Igs

• Pathogenesis: absent of the T cell effector CD40L, CD40L (CD154 ) can not bind to CD40 of B cells → do not stimulate B cells to undergo Ab class switching (Defect in CD40 ligand)

• Genetic : X-linked recessive inheritance, boy

• C/F : recurrent pyogenic infections & autoimmune processes. Sometimes seen in congenital rubella.

23
Q

Transient hypogammaglobulinemia

A

• Infants of both sexes.
• Abnormal delay in initiation of IgG synthesis in some infants.
• Maternal IgG is slowly catabolised in newborn & reaches
200mg/100ml by 2nd month.
• Delay in the synthesis of its own IgG by this age
• Recurrent otitis media & respiratory infections
• Spontaneous recovery: 18 -30 months of age.
• Some cases require treatment with gamma globulin.

24
Q

Common variable immunodeficiency
(immunological, pathogenesis, C/F and treatment)

A

• Late onset hypogammaglobulinemia
• manifests by 15-35 years of age and equal sex distribution
• Immunological : total Ig<300 mg/100ml, IgG< 250 mg/100ml
• Pathogenesis: B cells present in normal numbers, but
defective in their ability to differentiate into plasma cells & secrete Ig. Increased suppressor T cell & diminished helper T cell activity.
• C/F: recurrent pyogenic infections & increased autoimmune diseases. Malabsorption & Giardiasis are common.
• Treatment: gammaglobulin preparations I.M or I.V.

25
Q

Transcobalamin II deficiency
(genetic, immunological , C/F and treatment)

A

• Genetic : autosomal recessive
• Immunological: depleted plasma cells, diminished
immunoglobulin levels & impaired phagocytosis.
• C/F: patients show metabolic effects of vitamin B12 deficiency including Megaloblastic anaemia & intestinal
villous atrophy.
• Treatment :Vitamin B12

26
Q

CELLULAR IMMUNITY DEFICIENCY- features

A

Features
• increased susceptibility to intracellular microbes
• Delay in growth and development
• death at the early age
• increased incidence of malignant tumours
• Reduced numbers of peripheral blood B cells
• block in the differentiation and development of the T cells

27
Q

DiGeorge/Arch Syndrome

A

• Developmental defect 3rd & 4th pharyngeal pouches
• Aplasia or hypoplasia of thymus & parathyroid glands.
• intrauterine infection or other complications.
• gene deletions in the DiGeorge chromosomal region at 22q11
• M=F
• may be partial or complete.
• Facial Defects: Infants’ low-set ears, fish-shaped mouth, midline facial clefts, a
small receding mandible, hypertelorism, notched ear pinnae, antimongoloid slant
• Congenital heart disorder
• Thymic and parathyroid hypoplasia, causing T-cell deficiency
• Recurrent infections begin soon after birth and T-cell function may improve
spontaneously.
• Immunological: Primarily involves CMI

28
Q

Chronic mucocutaneous candidiasis

A

• Abnormal immunological response to Candida albicans •
C/F: Severe chronic candidiasis of mucosa, skin & nails.
• Don’t show increased susceptibility to other infections
• CMI to candida is deficient.
• Delayed hypersensitivity to candida antigens is absent
• Intracellular killing of candida is defective.
• Treatment: Transfer factor therapy along with amphotericin B

29
Q

Purine nucleoside phosphorylase ( PNP)
(genetic, immunological, C/F and dignosis)

A

• Enz PNP is involved in the sequential degradation of purines to hypoxanthine & finally uric acid
• Genetic: autosomal recessive inheritance.
• Immunological: decreased CMI .
• C/F: Recurrent or chronic infection, usually present with
hypoplastic anaemia & recurrent pneumonia, diarrhea &
candidiasis
• Diagnosis: A low serum uric acid

30
Q

Combined immunodeficiency diseases- Both T and B cells defect
Severe combined immunodeficiencies (SCID)

A

Severe combined immunodeficiencies (SCID)
• autosomal recessive disorder
• X-linked form (M>F) called primary lymphopenic ID
• IL-2Rγ-chain defect is the most common that leads to defective
signalling by the IL-2, IL-4, IL-7, IL-9 & IL-15.
• characterized by CD 8+ T cell deficiency. (tyrosine kinase- ZAP-70)
• Deficiency of recombinases RAG-1 & 2
• Immunological: decreased number of lymphocytes, thymus is either
not developed or very poorly developed, a small number of T cells fail to respond to antigens & experimental mitogens

31
Q

Features of SCID and treatment

A

Features of SCID
• Failure to thrive
• Onset of infections in the neonatal period
• Opportunistic infection
• Chronic or recurrent thrush
• Chronic rashes, Chronic didiarrhoea
• aucity of lymphoid tissue
• Immunity is so low that even the live attenuated vaccines are not tolerated- they can produce diseases.
• prolonged by confinement into a sterile environment.

• Treatment: gene therapy.

32
Q

Combined immunodeficiency diseases- Both T and B cells defect
Wiscott-Aldrich syndrome

A

Wiscott-Aldrich syndrome
• X-linked immunodeficiency which increases with age.
• Genetic: defective CD43 protein gene on the short arm of X
chromosome ( Xp11 ).
• This gene encodes a glycoprotein called sialophorin
• Immunological: CMI undergoes progressive deterioration
• Serum IgM level is low, IgG & IgA levels are normal or elevated
• humoral defect appears to be the specific inability to respond to
polysaccharide antigens.
• C/F: eczema, thrombocytopenic purpura & recurrent infections.

• Treatment : BMT & transfer factor therapy.

33
Q

Combined immunodeficiency diseases
Both T and B cells defect
ATAXIA-TELANGIECTASIA

A

ATAXIA-TELANGIECTASIA
• cerebellar ataxia, telangiectasia, ovarian dysgenesis & chromosomal abnormalities.
• Genetic: Gene responsible for chromosome 11.
• role in DNA repair
• ATM gene encodes Atm protein kinase
• C/F : earliest signs- ataxia & choreoathetosis movements noticed in
infancy. Telangiectasia involving the conjunctiva & face appears at 5
or 6 years of age.
• Immunological : affect T&B cells IgA, IgE and IgG2 deficiency. T cell
function is variably depressed. DTH & Graft rejection
• Treatment : Transfer factor therapy & fetal thymus transplants.

34
Q

Combined immunodeficiency diseases
Both T and B cells defect
Nezelof syndrome

A

Nezelof syndrome
• depressed CMI is associated with selectively elevated, decreased or normal levels of ig
• C/F: recurrent fungal, bacterial, viral & protozoal diseases associated with hemolytic anaemia.
• Immunological: marked deficiency of T cell immunity & varying degrees of deficiency of B cell immunity.
• Thymic dysplasia occurs with lymphoid depletion.
• Abundant plasma cells (spleen, LN, intestines & elsewhere in body)
• In spite of normal levels of immunoglobulins, antigenic stimuli don’t
induce antibody formation.
• Treatment: BMT, transfer factor & thymus transplantation.

35
Q

Disorders of phagocytosis- Chronic granulomatous disease

A

Chronic granulomatous disease
• Defect in generation of oxidative radicals needed phagocytic cells to kill the bacteria & other pathogens.
• Genetic : Mutation in NADPH .X-linked congenital defect -70%, autosomal recessive form
• Immunological : Besides free radical generation deficiency, there are also defects in mononuclear cells to function as APCs.
• Both antigen processing & presentation are affected
• C/F: recurrent infection with low grade pathogens, starting early in
life progress & outcome fatal
• Diagnosis : NBT ( Nitroblue tetrazolium )test
• Treatment : Interferon gamma .

36
Q

Secondary immunodeficiency disorders

A

Endocrine- Diabetes mellitus

GI- Hepatic insufficiency, hepatitis, intestinal lymphangiectasia, protein-losing enteropathy

Hematologic-Aplastic anemia, cancer, graft-vs-host disease, sickle cell disease

Iatrogenic- Chemotherapeutic drugs, immunosuppressants, corticosteroids, radiation therapy, splenectomy

Infectious- Cytomegalovirus, Epstein-Barr virus, HIV, measles virus, varicella-zoster virus

Nutritional- Alcoholism, undernutrition

Physiologic- Infants due to immaturity of immune system, pregnancy

Renal- Nephrotic syndrome, renal insufficiency, uremia

Rheumatologic- Rheumatoid arthritis, systemic lupus erythematosus

Other- Burns, chromosomal abnormalities (e.g. Down syndrome), congenital asplenia, critical and chronic illness, histiocytosis, sarcoidosis

Microbiology (10 decks)

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