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Immunodeficiency (Diagnosis (History (DH Meds, allergies, FH …
Immunodeficiency
Diagnosis
Examination
General
Depends on causative organism
Investigations
Bloods
FBC (lymphocyte subsets), CRP, U+E, LFT
Ig levels (M, G, A, E), Ab responses
Blood cultures, serology
Genetic screening (e.g. SCID, AT, LAD)
Imaging
CXR/CT: bronchiectasis
Bedside
Obs (fever)
Measurements (weight loss)
History
DH
Meds, allergies
FH
Immunodeficiency
PMH
Growth and development
Vaccinations
Known medical conditions
SH
Living arrangements,
occupation/school
PC/HPC
Recurrent unsual infections
Management
Conservative
Information, advice, support
Lifestyle (diet, weight loss, exercise)
Medical
Antimicrobial prophylaxis
Abx e.g. azithromycin for B-cell defects
Antifungal e.g. cotrimazole for T-cell defects
Ig replacement therapy
Indication: Ab deficiency
Route: IV (portacath, Hickman)
Surgical
BMT
Indication: SCID, granulomatous disease
MOA: use matched donor to replace with
normal bone marrow stem cells
Clinical
presentation
Infections
SPUD (severe, prolonged,
unusual or recurrent)
Failure to thrive
Epidemiology
Primary rare
Secondary common
Pathophysiology
Types
B-cell
Severe/unusual bacterial infections
E.g. ENT, pneumonia, skin infections, diarrhoea
Complications: impaired hearing, bronchiectasis
Neutrophil
Recurrent bacterial infections
E.g. abscesses, fungal infections, diarrhoea,
delayed wound healing
T-cell
Severe/unusual viral and fungal infections
E.g. bronchiectasis, oral thrush, diarrhoea, PCP, CMV
Leucocytes
Delayed wound healing (e.g. umbilical cord separation),
skin ulcers, deep infections
Complement
Recurrent bacterial illnesses e.g. encapsulated
SLE like illness
Cause
Primary: genetic defect of immune system
Secondary: caused by another disease or tx
e.g. malignancy, chemo, HIV
Aetiology
Primary
B-cell
X-linked agammaglobulinemia:
B-cells can't mature
CVID:
B-cell deficiency (autoimmune and malignant disease)
Hyper IgM syndrome:
B-cells cant switch from IgM to IgG/A
Selective IgA deficiency:
common; often asymptomatic or mucosal infections (ENT, pulmonary)
Neutrophils
Chronic granulomatous disease:
fail to kill phagocytosed organisms
T-cell
SCID:
humoral and cellular defects
DiGeorge syndrome:
defective thymus
Duncan disease:
susceptible to EBV (lymphomas)
Ataxia telangiectasia:
lymphomas from viruses
Wiscott-Aldrich syndrome
Leucocytes
LAD:
leucocytes cant adhere and migrate to infection/inflammation
Complement
Complement component deficiencies e.g. MBL
Secondary
Infection
HIV infection
Autoimmune
SLE, RA, sarcoidosis
Metabolic
DM, CKD, CLD, Coeliac, Crohns
nephrotic syndrome
Drugs
Steroids, immunosuppressants
Chemotherapy
Haematological
Splenectomy
Neoplastic
Mlaignancy
Definition
Reduced function of
the immune system