Immune deficiencies Flashcards
What type of immune deficiences are see in B-cell disorders?
- X-linked (Burton) agammaglobulinemia
- Selcetive IGA deficiency
- Common variable immunodeficiency
What type of immune deficiences are see in T-cell disorders?
CATI
- Chronic mucocutaneous candidiasis
- Autosomal dominant hyper-IgE syndrome (Job)
- Thymic aplasia (DiGeorge syndrome)
- IL-12 receptor deficiency
What type of immune deficiences are see in B-cell & T-cell disorders?
WASH
- Wiskott aldrich syndrome
- Ataxia telangiectasia
- Severe combined immunodeficiency (SCID)
- Hyper-IgM syndrome
What type of immune deficiences are see in Phagocyte dysfunction?
LCC
- Leukocyte adhesion deficiency (type I)
- Chediak-Higashi syndrome
- Chronic granulomatous disease
Presentation: Recurrent bacterial and enteroviral infections after 6 months (dec maternal IgG)
Findings: Normal CD19+ Bcell count, dec pro-B, dec Ig of all class
Id the disease and defect (inheritance, and increased risk in which pop ‘Male v Female)
- disease: X-linked (burton) agammaglobulinemia
- **defect: **D_efect in BTK a tyrosine kinase gen_e–> no B cell maturation. X-linked recessive (in risk in boys)
**Presentation: **Majority Asymptomatic. Can see airway and GI infections, Autoimmune disease, Atopy, Anaphylaxis to IgA-containing products.
Findings: IgA<7 mg/dL, with normal IgG, IgM levels
Id the disease and defect
- disease: selective IgA deficiency
- defect: unknown, MC 1o immunodeficiency
Presentation: can be acquired in 20-30’s; inc risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections
Findings: dec plasma cells, dec immunoglobulins
Id the disease and defect
- **Disease: **CVID (common variable immune deficiency)
- Defect: defect in B-cell differentiation, many causes.
Presentation: Tetany (hypocalcemia), recurrent viral/fungal infections, (T-cell def) conotruncal abnormalities (e.g. Tetralogy of Fallot, truncous arteriosus).
**Findings: **dec T cells, dec PTH, dec Ca2+, Absent thymic shadow on CXR. 22q11 deletion detected by FISH.
Id the disease and defect
- Disease: Thymic alpasia (DiGeorge syndrome)
- Defect: 22q11 deletion, failure to develop 3rd and 4th pharyngeal pouches–> absent thymus and parathyroids.
Presentation disseminated mycobacterial and fungal infections, may present after administeration of BCg vaccine.
Findings: dec in IFN-gamma!
Id the disease and defect (mode of inheritence)
- Disease: IL-12 receptor def
- Defect: dec Th1 response, autosomal recessive
Presentation Noninvasive Candida albicans infections of skin and mucous membranes
Findings Absent in vitro T-cell proliferation in response to Candida antigens
Id the disease and defect
- Disease: Chronic mucocutaneous candidiasis
- Defect: T-cell dysfunction
Presentation: Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal and protozoal infections.
Findings: Dec T-cell receptor excision circles (TRECs). Absent thymic shadow (CXR), germinal centers (lymph node biopsy), and Tcells (flow cytometry)
Id the disease and defect (what is the inhertence for the 2)
- **Disease ** SCID (severe combined immunodeficiency
-
Defect
- Several types including defective IL-2R gamma chain (MC Xlinked)
- a_denosinse deaminase deficiency_ (autosomal recessive)
Presentation Triad: cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency
Findings inc AFP, dec IgA, IgG, IgE. Lymphopenia, cerebellar atrophy
Id the disease and defect (and MOA)
- disease: Ataxia-telangiectasia
- **defect: **defects in ATM gene–> DNA double strands breaks–> cell arrest
Presentation Severe pyogenic infections early in life, opportunistic infection with *Pneumocytsis, Cryptosporidium, *CMV
**Findings **inc IgM, significant dec in IgG. IgA, IgE
Id the disease and defect
- Disease: Hyper-IgM syndrome
- Defect: MC due to defective CD40L on Th cells= class switching defect; X-linked recessive.
Presentation WATER: W-A-Thrombocytopenic purpura, Eczema, Recurrent infections. inc risk of autoimmune disease and malignancy.
**Findings **dec to normal IgG, IgM. inc IgA, IgE. Fewer and smaller platelets
Id the disease and defect **(type of inheritence)
- Disease: Wiskott-Aldrich syndrome
- Defect: mutation in WAS gene (x-linked recessive); Tcells unable to reorganize actin cytoskeleton.
Presentation Recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord (>30 days)
**Findings **inc neutrophils, absent of neutrophils at infection sites
**Id the disease and defect **(whats impaired and type of inhereitence)
- Disease LAD (type 1; leukocyte adhesion deficiency)
- Defect LFA-1 integrin (CD18) protein on phagocytes, impaired migration and chemotaxis; autosomal recessive.
Presentation Recurrent pyogenic infections of staphyloccoi and steptococci, partial albinism, peripheral neuropathy, progressive neurodegenerative, infiltrative lymphohistiocytosis.
Findings Giant granules in neutrophils and platelets. Panctopenia, mild coagulation defects.
Id the disease and defect **(inheritance)
- Disease: Chediak-Higashi syndrome
- Defect: Defect in lysosomal trafficking regulator gene (*LYST). *Microtubule dysfunction in phagosome lysosome fusion, autsomal recessive.
Presentation inc susceptibility to catalse postive organisms (PLACESS: Pseudomonas, Listeria, Asperigillus, Candida, E.colis, S. aureus, Serratia).
Findings Abnormal dihydrorhodamine (flow cytometry) test. Nitroblue tetrazolium dye reduction test is neg (test out of favor)
Id the disease and defect **(mode of inheritence)
- Disease Chronic Granulomatous Disease
- Defect NADPH oxidase –> dec rxn oxygen species (e.g. superoxide) and absent respiratory burst in neutrophils, x-linked recessive.
