CONGENITAL INMUNODEFICIENCIES Flashcards
Which is the most common way to classify Congenital Inmunodefiencies?
Based on whether affect:
1. T Cells
2. B Cells
3. Both
B Cell disorders: Features
Recurrent BACTERIAL infection [ENCAPSULATED]
Presents past 6 months of age
T Cell disorders: Features
Recurrent VIRAL/FUNGAL/PARASITIC infection
Presents at birth
Why do B-Cell disorders presents past 6 months of age?
Due to transmission of IgG during pregnancy and IgA during lactancy
X-Linked Agammaglobulinemia
- Cause: Mutation in Burton’s Tyrosine Kinase (Failure of B Cells to mature)
- Cell affected: B Cells
- Inheritance: X-Linked
- Decreased Igs + absent Lymphid tissue
Selective IgA defiency
- Most common congenital inmunodeficiency
- Isolated decrease in IgA / Normal IgM-IgG
- Increased risk of GI/Respiratory infections (GIARDIA)
- Increased Risk of ANAPHYLAXIS after BLOOD TRANSFUSION
Common Variable Inmunodefiency
- B Cell disorder poorly understood
- Decrease in B Cells and ALL Igs.
- Debut during 20-30s
- Increased risk of AUTOINMUNE DISEASE AND LYMPHOMA
DiGeorge Syndrome
- Also known as Thymic Aplasia
- T Cell disorder caused by DELETION of 22q11
- ABSENT THYMUS + PTH GLANDS
- Hypocalcemia (TETANIA) + ABSENT THYMIC SHADOW + Recurrent FUNGAL/VIRAL infection
Deletion of 22q11 leads to
APLASIA of 3rd and 4th PHARYNGEAL ARCH
(DiGeorge Syndrome)
Hyper IgE Syndrome (Job)
- AUTOSOMAL DOMINANT T Cell disorder
- Due to a STAT3 Mutation = DEFICIENT Th17 Cells
- Inability to recruit neutrophils / INCREASED IgE
- COARSE FACIAL FEATURES + Non inflammed abscesses + RETAINED PRIMARY TEETH + ECZEMA
Severe Combined Inmunodefiency
- Combined T Cell and B Cell disorder
- IL-2 Receptor mutation / Adenosine deaminase deficiency
- FAILURE TO THRIVE + Recurrent infections (ALL KIND)
Severe Combined Inmunodeficiency’s inheritance pattern
a) IL-2 Receptor mutation: X-Linked recessive
b) Adenosine deaminase deficiency: Autosomal Recessive
Ataxia Telangectasia
- Autosomal Recessive CANCER SYNDROME
- MUTATION of ATM gene (Cannot repair DNA breaks)
- ATAXIA + FTT + Angiomas + TELANGIECTASIAS
- Decreased IgA and Increased risk of BLOOD MALIGNANCY
Hyper IgM Syndrome
- X-Linked recessive = Deficiency of CD40L (Th Cell)
- Increased IgM with Decrease of the rest of Ig.
- SEVERE PYOGENIC INFECTIONS
- Increased Risk of Pneumocystis and CMV
Why do IgM is increased in Hyper IgM Syndrome
- Deficiency of CD40L = Impaired activation of B Cells (Deficient SECOND SIGNAL)
- CANNOT undergo Class switching = INCREASED DEFAULT Ig (IgM)
Wiskott-Aldrich Syndrmoe
- X-Linked = WASp gene mutation
- Impaired T Cells + Thrombocytopenia
- TRIAD: ECZEMA + PURPURA + RECURRENT OTITIS MEDIA
- Increased risk of Hematologic malignancies.
What is WASp gene function?
Stabilizing ACTINE in Leukocytes and Patelets
Chediak Higashi Syndrome
- AUTOSOMAL RECESSIVE (LYST GENE)
- Deficient Phagosome-Lysosome fusion due to deficient MICROTUBULE POLIMERIZATION
- GIANT GRANULES in granulocytes + Large Dysfunctional patelets
- PANCYTOPENIA + PERIPHERAL NEUROPATHY + ALBINISM
Chronic Granulomatous Disease
- X-Linked Rec = Defective NADPH OXIDASE
- Abnormal Dihydrorhodamine Test or FAILURE on NITROBLUE TETRAZOLIN reduction test.
- Increased risk of infection with CATALASE + organism (S. Aureus, Aspergillus, Pseudomona)
Complement disorders: Types
- EARLY: C1-C4
- TERMINAL : C5-C9
- C1 Estearase inhibitor Deficiency
Early Complement disorders
- Increased sinus and Respiratory infections
- Increased risk of LUPUS
- Decreased serum complement
Terminal Complement disorders
- Increased Susceptibility to NEISSERIA infections
C1 Estearase Inhibitor Deficiency
Associated to HEREDITARY ANGIOEDEMA (BRADYKININ)
Presents with Acute AIRWAY EDEMA unresponsive to treatment.
Paroxysmal Nocturne Hemoglobinuria
- Complement disorder caused by Defiency of GPI Anchor (CD55 = DCAF / CD59)
- DARK URINE in morning + INCREASED RISK OF THROMBOSIS +PANCYTOPENIA
Absent Lymphoid tissues is characteristic of
X-Linked Agammaglobulinemia (Bruton)
Mutation in tyrosine kinase is characteristic of which Congenital Inmunodefiency?
X-Linked Agammaglobulinemia (Bruton)
Which congenital inmunodefiency increases risk of anaphylaxis after blood transfusion?
Selective IgA deficiency
Which is the most common inmunodeficiency?
Selective IgA deficiency
Congenital Inmunodefiencies: B Cell disorders
X-Linked Agammaglobulinemia
Selective IgA deficiency
Common Variable Inmunodeficiency
Which Congenital Inmunodeficiency associates with increased GIARDIA infection?
Selective IgA deficiency
Which Congenital Inmunodeficiency present during 20s-30s years
Common Variable Inmunodeficiency
Common Variable Inmunodeficiency is associated with increased risk of
Autoinmune Disorders and Lymphoma
Congenital Inmunodeficiency that goes with absent thymic shadow
DiGeorge Syndrome
Which Congenital Inmunodeficiency is associated with Hypocalcemia? Why?
DiGeorge Syndrome / Absent PTH glands
Which inmunodefiency is associated with RETAINED PRIMARY TEETH and COARSE FACIAL FEATURES
Job Syndrome (Hyper IgE)
Which Congenital Inmunodeficiency follow a Autosomal Dominant inheritance pattern
Hyper IgE Syndrome
STAT 3 mutation is associated with
Hyper IgE Syndrome = Deficient Th17
Which congenital inmunodeficiency is associated with IL-2 receptor mutation or Adenosine deaminase deficiency
Severe Combined Inmunodeficiency
Which congenital inmunodeficiency go with Failure To Thrive
Severe Combined Inmunodeficiency
Which Congenital Inmunodeficiencies affect T Cells?
DiGeorge Syndrome
Hyper IgE Syndrome
ATM mutation is characteristic of which inmunodeficiency
Ataxia Telangiectasia
CD40L deficiency is associated with
Hyper IgM Syndrome
Which congenital inmunodeficiency go with the triad:
ECZEMA + PURPURA + RECURRENT OTITIS
Wiskott Aldrich Syndrome
Which congenital inmunodeficiency is associated with LYST mutation
Chediak Higashi Syndrome
Which congenital inmunodeficiencies are mixed?
Hyper IgM Syndrome
Wiskott-Aldrich Syndrome
Severe Combined Inmunodeficiency
Which Congenital Inmunodeficiency fails to turn BLUE in Nitroblue Tetrazolin Reduction Test
Chronic Granulomatous disease
Defective NADPH Oxidase is characteristic of
Chronic Granulomatous disease
Inefficicent Phagosome/Lysosome fusion is feature of
Chediak Higashi Syndrome
