Immunodeficiences Flashcards
The immune response is mediated by………….,…………, …………. , …………..,……………..
• The interactions between these cells and soluble mediators are……………. controlled.
T cells, B Cells , phagocytes cells & complement,cytokines
tightly
Primary immunodeficiency syndromes(usually congenital & rare) most of the cases 50% are………… deficiency
Antibodies
Primary immunodeficiency syndromes can be categorized based on clinical presentation, which roughly corresponds to the arm of the immune system malfunctioning:
5 points
• Phagocytic cells. 1
• Defectsinthecomplementsystem. 2
• B cell or antibody mediated immunity defect. 3
• Tcellorcellmediatedimmunitydefect. 4
• Both B cell and T cell defects.
Immune deficiency should be always considered in patients w………………………..
Recurrent infection
Mainly deficiency in the humoral(abs or complement)
Phagocytic cell deficiency, Complement
deficiency & B cell and antibody deficiency:
Commonly associated with recurrent infection W ………………………
T-cell and cell mediated immune deficiency: Commonly associated with increased susceptibility to………,……………….,……………
pyogenic organisms
viral, protozoan and fungal infections
SOME PHYSICAL SIGNS OF IMMUNODEFICIENCY (at least 5 points )
DYSMORFIC FACIES, HEART MURMUR
ORAL THRUSH
FAILURE TO THRIVE
GINGIVAL DISEASE
ABSENCE OF PALPABLE LYMPH NODES
LYMPHADENOPATHY/ORGANOMEGALY
TELANGIECTASIAS
Atypical atopic dermatitis
Presentation of…………………….. Defects
X-linked agammaglobulinemia
Common Variable Immunodeficiency
Selective IgA deficiency
Transient hypogammaglobulinemia
Hyper IgM syndrome
Recurrent bacterial infection (encapsulated)
chronic or recurrent gastroenteritis
Chronic enteroviral meningoencephalitis
Antibody
Presentation of…………….. Defects
Infection with catalase- positive organisms
Chronic granulomatous disease
Leukocyte adhesion deficiency
Chediak-Higashi syndrome
Soft tissue abscesses or lymphadenitis
Chronic gingivitis and periodontal disease
Delayed separation of the umbilical cord
Phagocyte
Presentation of……………. Defects
Recurrent, severe, or unusual viral infections
Failure to thrive
Infection with fungal
DiGeorge syndrome
Severe combined immunodeficiency
Wiskott-Aldrich syndrome
Hyper IgE syndrome
Ataxia Telangiectasia pathogens
Pneumocystis jirovecii, graft-versus-host disease
Cellular
Presentation of……………….. Defects
Abrupt onset of sepsis with encapsulated organisms
Recurrent disseminated Neisserial infections
Autoimmune manifestations
Angioedema of the face hands, feet or GI tract
Paroysmal nocturnal hemoglobinunuria
C1, C2, C3, C4 deficiency
C5-C9 terminal complement defiency
C1 esterase inhibitor deficiency
DAF, CD59
Complement
Defects in Phagocytic Function
The phagocytic cells faeil to engulf and /or kill microorganisms. The defect may involve any of the phagocytic cell activities: ……………. , ………….. , ………….. , …………..
chemotaxis, ingestion or killing and digestion.
Chronic granulomatous disease (CGD)
Deficiency of……………… enzyme
Clinical pic : Recurrent infections with catalase positive bacteria (e.g………………….,…………………)
Diagnosis → The nitroblue tetrazolium (NBT) dye reduction test is useful in identifying individuals with …………………………………………..and……………………………..
/Dichlorofluorescein (DCF) test
ttt?
oxidase/Staphylococcus aureus and pseudomonas
impaired respiratory burst activity
defective intracellular killing
Antibiotics/interferon-gamma
Complement Defects
The most serious among these is the……. a
deficiency in factor ….or factor ….
Hereditary angio edema (HAE)→ deficiency in……….
Clinical picture:
• Patients suffer from………………. at mucosal surfaces which becomes life threatening when it occurs in the…………… obstructing the airway passages.
Diagnosis→ decrease in—-——-, ——-, —-
C3/l/H
C1 inhibitor
localized edema / larynx
C1 inh & c2 & c4
Defects of Humoral Immunity Selective B-cell defect
(Bruton X-linked agammaglobulinemia)
failure of bone marrow to generate…………….
The disease is recognized in………
Patients suffer from recurrent………….. infections and increased susceptibility to some………. infections (respiratory and GIT)
There are normal responses to most intracellular microbes(cause the CMIR isn’t effected )
Diagnosis:
• Reduced or absent …………in the blood.
• No……………………….. in L.Ns
• No plasma cells in………….
• Reduced or absent…………………….. of all classes
ttt?
mature B-cells
Boys
Pyogenic / viral
B-cells
germinal centers
tissues
immunoglobulins
Monthly intravenous immunoglobulin (IVIG). • Prophylactic antimicrobials.
Dysgamma globulinemia→ hyper IgM syndrome + IgA deficiency( most common )
B-cells fail to differentiate into………………………….
impairs mucosal immunity, leading to…………………. infections
increased incidence of…………….and ………….disease
Atopy……….,……..,……..
Diagnosis based on clinical history + ↓….(< 7 mg/dL)
– normal IgG, IgM, and IgE
IgA-producing plasma cells
sinopulmonary
autoimmune diseases & celiac
allergies• atopic dermatitis • asthma
IgA
Dysgamma globulinemia→ hyper IgM syndrome
Inherited X-linked primary combined …..- and ……immunodeficiency characterized by increased levels of IgM
…………..is necessary to induce B-cells to undergo Ig class-switching from IgM to IgG, IgA, and IgE
Symptoms onset by 1 year, often with……………………..
Symptoms recurrent
– Chronic………….
– Opportunistic infections
• Pneumonia
• Pneumocystis
• Cryptosporidium
• CMV
• Echovirus encephalitis
Evaluation Ig levels
↑……. ↓……,…..,…..
Deficient expression of…….. on activated costimulatory T-helper cells
Normal….- and….-cells
B & T cells
CD40L
Pneumocystis infections
diarrhea
CD40L
B & T cells
T Cell Immunodeficiency
DiGeorge syndrome
Defect in embryogenesis with failure of formation of the……. Molecular defect and …… pharyngeal pouch (thymus , parathyroid ,aortic arch ,lips, palate→ ……………………..
CP :::
↑ susceptibility to…………..,…….,……,,……,….
Facial abnormalities (…………..,…………..,………,………..).
• Hypoparathyroidism
• Cardiac anomalies
Diagnosis:
• Marked reduction in the number of circulating
……………….mainly……cells
Negative delayed hypersensitivity skin test
ttt…………….
3rd + 4th
Thymic Aplasia & hypo Aplasia
mycobacterial, viral and fungal
low set ears, hypertelorism, cleft lip cleft palate
Lymphocyte
Fetal thymic transplant
IL-17/R defect→ ————-
ttt→———
Mucocuteneaus candidiasis
Anti-fungal therapy
IL-12, (IFN-γ)/ Receptors Defect→ Recurrent or severe infections with………………….+……………… species
Common presentation: disseminated infection
with……..
mycobacteria and Salmonella species.
BCG
Combined B cell and T cell deficiency (X-linked SCID)
CP ::…………,…………….,,…………..
Diagnosis:
• Thymic hypoplasia (seen by X-ray)
• Marked lymphopenia.
• Patients have no T cells and are unable to mount a humoral immune response.
ttt……………………
Oral thrush ,diarrhea and pneumonia
Transplantation of histocompatible bone marrow
Secondary immunodeficiency
Breaching the barriers →——-,..……………,………………….
Excessive loss of immunoglobulins→……….,………,……
Splenectomy
Depression of the immune system by………,………,……
Immunosuppressive therapy→……….,………….,………..
Neoplasia→-………………..,………………..,……………..
Neutropenia, lymphopenia/Devitalized tissue, fluid collection/Alteration of acidic pH
Dialysis/nephrotic syndrome/protein-losing enteropathy
Old age, malnutrition viral infection, surgery
Irradiation, Corticosteroids,cytotoxic drugs
Hodgkin’s disease Multiple myeloma Chronic lymphatic leukaemia
Five major host immune defects
1-Skin/mucosal barriers
2. Phagocytosis, eg neutrophils
3. Humoral immunity: Antibodies made by B
cells, B cells, spleen
4. Complement
5. Cell-mediated immunity: T cells
Details….
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