case studies Flashcards
(33 cards)
what is HYPER IGM SYNDROME: XHIM characterised by
decreased levels of IgG and IgA in the blood and normal or elevated levels of IgM.
diagnostic criteriaa for XHIM
- History of recurrent or severe bacterial infections
- Absence or low IgG and IgA antibodies, and elevated IgM antibodies.
3.CD40 ligand deficiency (CD40L) on activated T cells or a mutation in the CD40L gene.
XHIM treatments
antibiotics, immunoglobulin replacement therapy, stem cell transplant
what are SCID
Disorders that effect IS, lack of functional b and t cells, caused by genetic mutations
SCID treatments
antibiotics/antifungal medications, bone marrow transplantation, gene therapy
most severe form of SCID
Reticular dysgenesis
what is di george syndrome a genetic disorder casued by
Chromosome 22 deletion
di george syndrome diagnostic criteria
1.Congential heart defects, cleft palate and facial features.
2.Genetic testing by FISH/NGS - show chm 22 deletion
3.Immune function tests (low t cells and abs)
di george syndrome treatments
surgery for heart defects, calcium and vitamin d to prevent hypoparathyroidism, immunoglobulin replacement therapy
what is XLA brutons disease
Genetic disorder affecting ab production. BTK gene mutations. B cell development affected.
XLA brutons disease diagnostic criteria
Recurrent bacterial infections
Absent/ low immunoglobulins (IgM and IgG)
Absent or low b cells
Genetic testing for BTK mutation
XLA brutons disease treatments
immunoglobulin replacement therapy, antibiotics, bone marrow transplant
what Ig levels are normal in IgA deficiency
IgG and IgM
chediak-higashi disease
Genetic disorder affecting IS (recurrent infections, bleeding, and pigmentation)
LYST gene mutation
main symtpom of chediak-higashi
Bleeding and pigmentation of hair and skin
Chediak-higashi treatments
antibiotics, immunoglobulin replacement therapy, hematopoietic stem cell transplant, blood transfusion
HIV symptoms in acute phase (2-4 weeks)
Fever, rash, fatigue, headache, sore throat
AIDS diagnostic criteria
CD4 cell count below 200
Opportunistic infections
Cancers like kaposis sarcoma and non-hodgkins lymphoma
HIV infection
HIV and AIDS main treatment
anti-retroviral therapy
multiple myeloma
Plasma cell cancer where abnormal plasma cells multiply in bone marrow – destroying bone tissue and making abnormal proteins
multiple myeloma diagnostic criteria
Presence of M protein in blood/urine test
Presence of 10%+ clonal bone marrow plasma cells in bone marrow biopsy
Hypercalcemia/anaemia/kidney problems/bone lesions/bone fractures
light chain disease diagnostic criteria
Monoclonal light chains (bence-jones protein) in urine/serum
End organ damage (anaemia, kidney problems, bone lesions)
Abnormal plasma cells in bone marrow
alpha chain disease
alpha heavy chains present in serum/urine, end organ damage and no light chains
WALDENSTROM’S PRIMARY MACROGLOBULINAEMIA
lymphoma - high level of IgM in blood
