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.