Immunology - general Flashcards
mild/moderate neutropenia, asymptomatic, with SNP in DARC
congenital benign neutropenia
Moderate/severe neutropenia with autoimmune disease but no increased risk of infection
Familial (idiopathic) neutropenia
Neutropenia that occurs every 4-6 weeks
Cyclic neutropenia
Treatment for severe congenital neutropenia
G-CSF ± SCT
ELA-2 mutation
Cyclic neutropenia
HCLS-1 mutation
Kostmann syndrome
Delayed umbilical cord sloughing, high neutrophil count, inability to make pus
Leukocyte adhesion deficiency
Granulomas, hepatosplenomegaly and infection with pseudomonas or candida etc.
Chronic granulomatous disease
Results for chronic granulomatous disease on testing
NBT: -ve (Does not turn from blue to yellow)
DHR: -ve (Does not turn from DHR to rhodamine (fluorescent))
Treatment for chronic granulomatous disease
IFN-gamma
mitochondrial AK2 mutation
Reticular dysgenesis
Recurrent infection with encapsulated bacteria, auto-immune disease and chronic inflammation → may predispose to SLE
Classical complement pathway deficiency
Recurrent infection with encapsulated bacteria with nephritic syndrome and partial lipodystrophy
Secondary C3 deficiency
Sudden swelling of the lips and face, wheeze, erythema with no preceding trigger
C1 esterase/inhibitor deficiency → bradykinin mediated angioedema
Haemolysis, thrombosis and pancytopenia
CD55, CD59
Bloods show low T cells but normal B cells
X-linked SCID
Bloods show low T cells, NK cells and low B cells
ADA deficiency (SCID)
Bloods show low T cells and normal B cells with cleft palate, tetralogy of fallot and hypocalcaemia
DiGeorge Syndrome
Low CD4, normal CD8, low IgG/A/E, normal B cells
Bare lymphocyte syndrome II
recurrent infection with TB, salmonella, BCG
IL-12 or IFN-gamma deficiency
Normal T cells (absence of CD40L), Normal B cells, High IgM, low IgG/A/E, no germinal centre development
Recurrent infection and infection with PCP, autoimmune diseases, malignancy
Hyper IgM syndrome
Normal T cells, Normal B cells, raised IgE and IgA, low WCC and thrombocytopenia
Eczema
Wiskott aldrich syndrome
Recurrent childhood infections with absence of tonsils/lymph nodes
Low B cells, low Ig
Bruton’s X-linked hypogammaglobulinaemia
Recurrent respiratory tract and GI infections ± allergic disorders
Selective IgA deficiency
Recurrent bacterial infections with severe end-organ damage
1. Pneumonia, persistent sinusitis, gastroenteritis
Pulmonary - Bronchiectasis, ILD
GI – IBD-like disease, sprue-like illness, bacterial overgrowth
Autoimmune disease – AIHA, RA, pernicious anaemia, thyroiditis, vitiligo
Malignancy – Non-Hodgkin Lymphoma
Common variable immune deficiency
Marked reduction in IgG, with low IgA or IgM
Poor/absent response to immunisation
Common variable immune deficiency
functional testing for the classical complement pathway
CH50
Functional testing for the alternative complement pathway
AP50
Fevers lasting 48-91 hours, chest pain, abdominal pain, joint pain, rash
Familial mediterranean fever
Raised CRP, amyloid A raised, MEFV gene identified
Familial mediterannean fever
Diabetes, dermatitis, enteropathy, hypothyroidism
IPEX
T1DM, vitiligo, Hypothyroidism, hypoparathyroidism, addison’s, enteropathy, candidiasis
APECED
Lymphadenopathy, hepatosplenomegaly, lymphocytosis, increased risk of lymphoma, autoimmune disease
ALPS
FLAWS + cold peripheries, claudication + aortic arch involvement
Takayusu’s arteritis
Scalp tenderness, claudication of the jaw, temporal headache, raised ESR
Giant cell arteritis
Biopsy shows transmural inflammation with skip lesions and giant cells
Giant cell arteritis
low back pain and stiffness, enthesitis, large joint arthritis
Ankylosing spondylitis
Droopy eyelids, weakness on repetitive activity, symptoms worse at the end of the day
Myasthenia gravis
Test for myasthenia gravis
Tensilon test (injection of edrophonium/anti-cholinesterase)
Haemoptysis with widespread crackles in the lungs, leg swelling, reduced urine output, microscopic haematuria + proteinuria
Goodpasture’s syndrome
Seizures, endocarditis, myocarditis, serositis, pleuritis, pericarditis glomerulonephritis, haemolytic anaemia, arhtiritis, discoid lupus, malar rash
SLE
ANA raised, Anti-dsDNA raised, anti-ENA raised, anti-Ro, La, Sm, ELISA: lumpy bumpy with speckled appearance. C4 low → C3 low
SLE
ANA positive, speckled staining, ENA, Ro, La with inflammatory infiltration and destruction of the exocrine glands
Sjogrens syndrome
High calcium, hands turn white in the cold, difficulty swallowing, visible vessels
Limited cutaneous systemic sclerosis
Anti-centromere
Limited cutaneous systemic sclerosis
Abdo pain, SOB, High calcium, hands turn white in the cold, difficulty swallowing, visible vessels, skin involvement past forearms
Diffuse cutaneous systemic sclerosis
Anti-topoisomerase/Anti-scl70
Diffuse cutaneous systemic sclerosis
Anti-Jo1 (t-RNA synthetase), Mi2, SRP
dermatomyositis or polymyositis
Muscle weakness with no pain, rash around the eyes with oedema, rash and erythema overlying the knuckles, rash over the scalp, erythema on the shoulders
Dermatomyositis
