case studies Flashcards
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
WALDENSTROM’S PRIMARY MACROGLOBULINAEMIA symptoms
Fatigue, weakness, weight loss, enlarged lymph nodes
GRAVES DISEASE
Thyroid gland produces too much thyroid hormone – most common cause of hyperthyroidism.
graves disease symptoms and treatments
Rapid heartbeat, weight loss, fatigue
beta-blockers, anti-thyroid medications, surgery
HASHIMOTOS THYROIDITIS
IS attacks thyroid gland = damage and inflammation, less thyroid hormone produced
HASHIMOTOS THYROIDITIS symptoms
Fatigue, weight gain, slow heartbeat, dry skin, enlarged thyroid
HAEMOLYTIC ANAEMIA
autoimmune disease where Blood cells destroyed faster than produced = shortage of O2 carrying RBCs
haemolytic anaemia diagnostic criteria
Fatigue, weakness, shortness of breath, jaundice
Low hb level
High reticulocyte count
Fragmented/misshapen RBCs on blood smear.
Blood test detecting autoantibodies.
systemic lupus and diagnostic criteria
AID affecting tissues in body
Rash on cheeks and nose
Photosensitivity
Arthiritis
Ulcers
Kidney damage
lupus treatments
nonsteroidal anti-inflammatory drugs, corticosteroids, immunosuppressants
