Immunology/Rheumatology Flashcards
Types of infections with Ig deficiencies
Sinupulmonary infections with encapsulated bacteria (usually extracellular pathogens)
Most common type of immunodeficiency
B-cell of Ig
Examples of B-cell/Ig immunodeficiency
X-linked agammaglobulinemia (Bruton's) Common variable (CVID) Selective IgA IgG subclass X-linked hyper-IgM Transient hypogammaglobulinemia of infancy
Bruton’s
X-linked agammaglobulinemia
Bruton’s findings
Recurrent severe pyogenic infections Persistent meningoencephalitis (enteroviruses)
Bruton’s diagnosis
Low levels of all Ig types, frew B cells
Bruton’s genetics
X-linked
Bruton tyrosine kinase
CVID presentation
Later in life, similar infections to Bruton’s but less severe
CVID associations
Autoimmune disease - hemolytic anemia, alopecia, arthritis…
Most common inherited immunodeficiency
Selective IgA
Selective IgA findings
Chronic sinupulmonary infections caused by pyogenic bacteria but less severe than Bruton’s or CVID
IgG subclass diagnosis
Antibody response may be impaired despite normal Ig level and IgG subclass
X-linked hyper-IgM cause
Defect in CD40 ligand (2/2 congenital rubella?)
Examples of T-cell immunodeficiency
DiGeorge syndrome SCID Wiskott-Aldrich Ataxia-telangiectasia Hyper-IgE syndrome
Types of infections with T-cell deficiency
Intracellular pathogens - viruses, fungi, protozoa. Diarrhea and growth retardation common due to frequent GI infections.
Severe combined immunodeficiency (SCID) features
Lack of cell-mediated and Ab immunity
Susceptible to all infectious agents - diarrhea, candida, CMV, PCP…
Most patients die w/in 2 years
SCID defect
Adenosine deaminase deficiency
Wiskott-Aldrich genetics
X-linked
Wiskott-Aldrich findings
Eczema, thrombocytopenic purport, recurrent infections of all types
PI associated with lymphoreticular malignancy
Wiskott-Aldrich
Ataxia-telangiectasia
Ataxia-telangiectasia genetics
AR d/o of chromosome repair
Hyper-IgE syndrome findings
Recurrent skin abscesses, dental abnormalities, sinupulmonary infections, chronic dermatitis, coarse facies
Phagocyte disorders
Chronic granulomatous disease (GCD)
Chediak-Higashi syndrome
Leukocyte adhesion deficiency
Phagocyte disorder findings
Recurrent infections of skin, respiratory tract and deep tissues; abscesses; staphylococcci infection; oral ulcerations and perirectal abscesses
CGD genetics
X-linked and AR
Defect in P-450 or NADPH oxidase system
Inability to kill cells that produce catalase (ie staph)
CGD treatment
interferon gamma; Bactrim prophylaxis
Nitroblue tetrazolium dye reduction test (NBT)
Measures oxidative burst (frequently used to diagnosis CGD)
Chediak-Higashi syndrome findings
Recurrent staph infections, partila oculocutaneous albinism
Most common complement defect
C2
Complement deficiency disorder findings
Classical pathway (C1,C2,C4) - autoimmune, sinupulmonary infections Alternative pathway (C3) - recurrent pyogenic infections Membrane attack complex (C5-C9) - Neisseria
Diagnosis of defects in cell-mediated immunity
skin testing (pt > 24 months), T-cell subsets
CH50 test
Detects disorders of proteins in the cascade from C1 to C9
Diagnosis of JIA
onset < 16 yo, presence of arthritis, duration > 6 weeks
Chronic arthritis more common in boys
enthesitis-related
Risk for uveitis
pauciarticular, polyarticular RF-, enthesitis-related
Highest risk for uveitis
girls, 1-3 yo, pauciarticular, ANA+
Felty syndrome
splenomegaly and leukopenia
Chronic arthritis with risk of atlantoaxial subluxation
polyarticular
Rash in systemic JIA
salmon-pink macular, Koebner phenomena
Findings in psoriatic arthritis
nail pitting, onycholysis, dactylitis (sausage digit)
Biologic agents for systemic JIA
anti-IL1, anti-IL6
Triggers for reactive arthritis
GI (shigella, salmonella, campylobacter, yersinia), GU (chlamydia)
Drug-induced lupus
anti-convulsants, hydralazine, isoniazid, procainamide, minocycline
Highest prevalence of SLE in US
African-American females
Hemolytic manifestations of SLE
hemolytic anemia, thrombocytopenia, lymphopenia, anti-phosopholipid antibodies
SLE renal disease class I
normal/minimal change
SLE renal disease class II
mesangial nephritis, no progression
SLE renal disease class III
focal segmental proliferative GN, more serious
SLE renal disease class IV
diffuse proliferative GN, most severe, low C3, elevated anti-dsDNA
SLE renal disease class V
membranous GN
SLE renal disease class VI
glomerular sclerosis, end-stage
anti-dsDNA
present in active renal dz, pathognomonic for SLE
anti-SM
SLE, CNS dz
anti-RNP
mixed CT dz
SLE treatment
NSAIDS (no ibuprofen - aseptic meningitis), steroids, hydroxychloroquine, azathioprine, cyclophosphamide, MMF
Leading cause of death in SLE
sepsis
HSP peak incidence
4-7 years
Most specific finding of dermatomyositis
Gottron papules
Diagnosis of dermatomyositis
CK, LDH, LFT’s, MRI, muscle biopsy (gold standard)
Most common finding in infants of mothers with SLE
No findings!
Most common finding in neonatal lupus
transient photosensitivity rash
Treatment of heart block in neonatal lupus
pacemaker
PFAPA syndrome
periodic fever, aphthous stomatitis, pharyngitis, adenopathy (elevated ESR/CRP)
Management of PFAPA
T&A
Treatment of juvenile fibromyalgia
PT, CBT, improved sleep, amitripytline
Takayasu’s arteritis findings
stenosis of aorta and branch arteries
Rate of extra-cutaneous manifestations in linear scleroderma
20%
Wegener’s granulomatosis findings
sinusitis, hemopytisis, GN w/ hematuria
Wegener’s diagnosis
c-ANCA, anti-proteinase-3 IgG
Findings that indicate underlying rheumatologic condition in Raynaud’s
+ANA, abnormal nail fold capillaries
Rash associated with sarcoid
erythema nodosum
Diagnosis of sarcoid
elevated ACE (60%) - less common in african americans, biopsy w/ noncaseating granuloma
Familial Mediterranean fever presentation
attacks of fever, abdominal pain and arthritis
FMF natural history
amyloidosis leading to renal failure (reduced by use of colchicine)
