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last ever exam > case studies > Flashcards

case studies Flashcards

1
Q

what is HYPER IGM SYNDROME: XHIM characterised by

A

decreased levels of IgG and IgA in the blood and normal or elevated levels of IgM.

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2
Q

diagnostic criteriaa for XHIM

A
  1. History of recurrent or severe bacterial infections
  2. 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.

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3
Q

XHIM treatments

A

antibiotics, immunoglobulin replacement therapy, stem cell transplant

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4
Q

what are SCID

A

Disorders that effect IS, lack of functional b and t cells, caused by genetic mutations

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5
Q

SCID treatments

A

antibiotics/antifungal medications, bone marrow transplantation, gene therapy

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6
Q

most severe form of SCID

A

Reticular dysgenesis

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7
Q

what is di george syndrome a genetic disorder casued by

A

Chromosome 22 deletion

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8
Q

di george syndrome diagnostic criteria

A

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)

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9
Q

di george syndrome treatments

A

surgery for heart defects, calcium and vitamin d to prevent hypoparathyroidism, immunoglobulin replacement therapy

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10
Q

what is XLA brutons disease

A

Genetic disorder affecting ab production. BTK gene mutations. B cell development affected.

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11
Q

XLA brutons disease diagnostic criteria

A

Recurrent bacterial infections

Absent/ low immunoglobulins (IgM and IgG)

Absent or low b cells

Genetic testing for BTK mutation

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12
Q

XLA brutons disease treatments

A

immunoglobulin replacement therapy, antibiotics, bone marrow transplant

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13
Q

what Ig levels are normal in IgA deficiency

A

IgG and IgM

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14
Q

chediak-higashi disease

A

Genetic disorder affecting IS (recurrent infections, bleeding, and pigmentation)
LYST gene mutation

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15
Q

main symtpom of chediak-higashi

A

Bleeding and pigmentation of hair and skin

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16
Q

Chediak-higashi treatments

A

antibiotics, immunoglobulin replacement therapy, hematopoietic stem cell transplant, blood transfusion

17
Q

HIV symptoms in acute phase (2-4 weeks)

A

Fever, rash, fatigue, headache, sore throat

18
Q

AIDS diagnostic criteria

A

CD4 cell count below 200

Opportunistic infections

Cancers like kaposis sarcoma and non-hodgkins lymphoma

HIV infection

19
Q

HIV and AIDS main treatment

A

anti-retroviral therapy

20
Q

multiple myeloma

A

Plasma cell cancer where abnormal plasma cells multiply in bone marrow – destroying bone tissue and making abnormal proteins

21
Q

multiple myeloma diagnostic criteria

A

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

22
Q

light chain disease diagnostic criteria

A

Monoclonal light chains (bence-jones protein) in urine/serum

End organ damage (anaemia, kidney problems, bone lesions)

Abnormal plasma cells in bone marrow

23
Q

alpha chain disease

A

alpha heavy chains present in serum/urine, end organ damage and no light chains

24
Q

WALDENSTROM’S PRIMARY MACROGLOBULINAEMIA

A

lymphoma - high level of IgM in blood

25
Q

WALDENSTROM’S PRIMARY MACROGLOBULINAEMIA symptoms

A

Fatigue, weakness, weight loss, enlarged lymph nodes

26
Q

GRAVES DISEASE

A

Thyroid gland produces too much thyroid hormone – most common cause of hyperthyroidism.

27
Q

graves disease symptoms and treatments

A

Rapid heartbeat, weight loss, fatigue

beta-blockers, anti-thyroid medications, surgery

28
Q

HASHIMOTOS THYROIDITIS

A

IS attacks thyroid gland = damage and inflammation, less thyroid hormone produced

29
Q

HASHIMOTOS THYROIDITIS symptoms

A

Fatigue, weight gain, slow heartbeat, dry skin, enlarged thyroid

30
Q

HAEMOLYTIC ANAEMIA

A

autoimmune disease where Blood cells destroyed faster than produced = shortage of O2 carrying RBCs

31
Q

haemolytic anaemia diagnostic criteria

A

Fatigue, weakness, shortness of breath, jaundice

Low hb level

High reticulocyte count
Fragmented/misshapen RBCs on blood smear.

Blood test detecting autoantibodies.

32
Q

systemic lupus and diagnostic criteria

A

AID affecting tissues in body

Rash on cheeks and nose

Photosensitivity

Arthiritis

Ulcers

Kidney damage

33
Q

lupus treatments

A

nonsteroidal anti-inflammatory drugs, corticosteroids, immunosuppressants

last ever exam (10 decks)

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