Immune deficiencies Flashcards
Defect in X-linked (Bruton) agammaglobulinemia
BTK, a tyrosine kinase gene –> NO B CELL maturation
Selective IgA deficiency presentation
A's Most are asymptomatic Airway infections: Sinus, lung Autoimmune disease Atopy Anaphylaxis to IgA containing products
Thymic aplasia (DiGeorge) defect
22q11 deletion –> failure to develop 3rd and 4th pharyngeal pouches –> absence of thymus and parathyroid glands
IL-12 receptor deficiency presentation
Mycobacterial infections. Decreased Th1 response and decreased IFN-g
Chronic mucocutaneous candidiasis defect & presentation
T-cell dysfunction -> noninvasive candida albicans infections of skin and mucous membranes
Hyper IgM
Defective CD40L on Th cells means can’t switch Ig classes
IL-12 deficiency
Increased susceptibility to mycobacteria infections
SCID presentation
FTT
Chronic diarrhea
Thrush
Recurrent viral, bacterial, fungal, and protozoal infections
SCID severe recurrent infections
- Chronic mucocutaneous candidiasis
- Fatal or recurrent RSV, VZV, HSV, measles, flu, parainfluenza
- PCP pneumonia
No thymic shadow
- SCID
2. DiGeorge
Wiskott-Aldrich presentation
WAITER: Wiskott-Aldrich Immunodeficiency Thrombocytopenia and purpura Eczema on trunk Recurrent pyogenic infections X-linked
What are the x-linked immunodeficiencies
"WACH" Wiskott aldrich Bruton agammaglobulinemia \+/- Chronic granulomatous disease \+/-Hyper-IgM syndrome
Ig levels in Wiskott-Aldrich
Low IgM, High IgA
Ataxia-Telangectasia defect
IgA deficiency + Decreased T cells 2/2 defect in ATM gene –> DNA ds breaks –> cell cycle arrest
Ataxia-Telangectasia presentation
Cerebellar ataxia
Poor smooth pursuit of moving target with eyes
Radiation sensitivity
Chronic granulomatous disease defect
Lack of NADPH oxidase activity –> Impotent phagocytes
Presentation of chronic granulomatous disease
Susceptible to organisms with catalase (PLACESS) Pseudomonas Listeria Aspergillus Candida E Coli S. aureus Serratia
How is CGD diagnosed
Nitroblue tetrazolium (NBT) dye test - no blue-black oxidation Or, abnormal dihydrorhodamine flow cytometry test
Defect in Chediak-Higashi disease
Defective LYST gene (lysosomal transport) such that lysosomes of phagocytes are ineffective.
–> See giant cytoplasmic granules in neutrophils and plts.
Chediak-Higashi presentation triad
- Partialbinism (partial albinism!)
- Recurrent respiratory tract and skin infections
- Neurologic d/o’s: Peripheral neuropathy, neurodegeneration, seizures
Hyper-IgE syndrome (Job syndrome) presentation
FATED:
coarse Facies: broad nose, frontal bossing
cold noninflamed staphylococcal Abscesses
retained primary Teeth -> 2 rows of teeth
high IgE, eosinophils
Dermatologic probs (Eczema)
Hyper-IgE syndrome (Job syndrome) defect
Deficient in IFN-g = impaired neutrophil chemotaxis, so neutrophils can’t get to where they need
Leukocyte adhesion deficiency syndrome defect
Abnormal integrins –> inability of phagocytes to exit circulation and integrate into interstitium.
Leukocyte adhesion deficiency syndrome Presentation
Delayed separation of umbilical cord
Impared wound healing
Thymic aplasia (DiGeorge) presentation
T cell deficiency, Low PTH and therefore Low Calcium
- Tetany
- Recurrent viral/fungal infections
- Tetralogy of fallot/truncus arteriosis
Lab and imaging findings in DiGeorge
Low serum PTH and calcium
Absent thymic shadow in XR
X-linked (Bruton) agammaglobulinemia Presentation
Recurrent bacterial and enteroviral infections after 6 months 2/2 decreased maternal IgG.
X-linked (Bruton) agammaglobulinemia lab findings
Normal CD19+ B cell count
Low Ig of all classes
Absent/scanty lymph nodes and tonsils
Eczema, recurrent cold abscesses, high serum IgE
Hyperimmunoglobin E (Job syndrome)
Large lysosomal vesicles in phagocytes
Chediak-Higashi disease
