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
