Immunodeficiency diseases Flashcards
SCID clinical manifestations
- Chronic Diarrhea
- Skin, mouth and throat lesions
- Oppurtunistic (Fungal) infections
Chediak-Higashi Syndrome symptoms
- Recurrent infections with bacteria: chemotactic and degranulation defect
- Absent NK activity
- Partial albinism
Job’s Syndrome symptoms
- Coarse face
- Cold abscesses
- Retained primary teeth
- Increase IgE
- Eczema
Wiskott-Aldrich Syndrome defect
Defect in cytoskeletal glycoprotein
X-linked Combined B-cell and T-cell deficiency
Bruton X-linked Hypogammaglobulinemia Symptoms
- Low Ig of all classes
- No circulating B Cells
- B Cell maturation stops at Pre-B Stage
Chediak-Higashi Syndrome molecular defect
Granule structural defect
MHC 1 deficiency clinical manifestations
- CD8 T-cell deficient
- CD4 T-cell normal
- Recurring viral infections
- Normal DTH
- Normal Ab production
Ataxia telangiectasia defect
Defect in Kinase involved in the cell cycle
CGD molecular defect
NADPH oxidase deficiency causes failure to generate superoxide anion
Ataxia telangiectasia clinical manifestations
- Ataxia: Gait abnormalities
- Telengiectasia: Capillary distortions int he eye
- Deficiency of IgA and IgE production
CGD symptoms
Recurrent infections with catalase-positive bacteria and fungi
DiGeorge Syndrome clinical manifestations
- Facial abnormalities
- HyopPTH
- Cardiac malformation
- Depression of T-cell number
- Absence of T-cell response
G6PD deficiency molecular defect
Deficiency of essential enzymes in Hexose Monophosphate shunt
Bruton X-linked Hypogammaglobulinemia Molecular defect
Deficiency of Tyrosine Kinase blocks B-cell Maturation
SCID defect
Common γ chain of IL-2 receptor
X-linked
Job’s Syndrome molecular defect
- TH1 cells cannot make IFN-γ
- PMN do not respond to chemotactic stimuli
G6PD deficiency symptoms
Same as CGD + Anemia
MHC 1 deficiency Defect
Failure of TAP 1 molecules to transport peptides to ER
X-linked Hyper-IgM Syndrome molecular defect
Deficiency of CD40L on activated T-cells
Wiskott-Aldrich Syndrome clinical manifestations
- Defective responses to bacterial polysaccharides and depressed IgM
- Gradual loss of Humoral and Cellular responses
- Thrombocytopenia
- Eczema
- IgA and IgE may be elevated
LAD symptoms
Recurrent and chronic infections with failure to form pus and does not reject umbilical cord stump
Selective IgA deficiency molecular defect
Deficiency of IgA
DiGeorge Syndrome defect
Failure of formation of 3rd and 4th pharyngeal pouches
Selective IgA deficiency Symptoms
- Repeated sino-pulmonary and GI infections
- Increase Atopy
