List of Autoantibody/Disease Associations (+Infection association to conditions)

sometexan84

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In case anyone's interested, these are auto-antibodies I've found in association w/ certain conditions. I thought others might benefit from this.

I kept other info as well, like associated infections w/ the disease/condition, I thought some might like to know.

"Matching Symptoms" is just what I had wrote down for the symptoms I found in that condition that matched w/ me. So, know that it's not a list of all symptoms in that condition. I thought I'd leave it in though, cause it could still be helpful.

Note: this is still a work in progress, and I would love to know if anyone has additional info regarding antibody associations (even if it doesn't fit w/ this list)


Autoantibody/Disease Associations


Dilated cardiomyopathy
  • Matching Symptoms: Irregular heartbeat, fatigue, reduced ability to exercise
  • Most common in men ages 20 to 50
  • Antibodies: Adenine nucleotide translocator (ANT) in 60%; Beta-1 adrenergic receptor in 50%; Muscarinic receptor (M2 at least), β and α myosin heavy chain, actin, laminin, troponin, desmin, sarcolemmal and myolemmal, fibrillary and interfibrillary, mitochondrial, Na/K-ATPase, NADH dehydrogenase, HSP60, HSP70
  • Infections: Coxsackie B3
Diabetes / Diabetic Autonomic Neuropathy
  • HLA: DQ8 (DQA1*03:01 - DQB1*03:02) – Type I
    • DR4-DQ8 (DRB1*04:01 - DQA1*03:01 - DQB1*03:02) - Juvenile diabetes
    • DRB1*04:01 – Type I
  • Coxsackie B related to Type I Diabetes
  • Antibodies: Islet cell, Insulin (IAA), Glutamic acid decarboxylase (GAA or GAD), Protein tyrosine phosphatase (IA2 or ICA512), Phospholipid, VOCC L-type, VGCC P/Q and N Type, Compliment-fixing neuron antibodies, Sympathetic ganglia, Adrenal medullary, Vagus nerve
  • Diabetic autonomic neuropathy
Meningitis - inflammation of the meninges (protective membranes covering the brain and spinal cord)
  • Infections
    • Viral: Enterovirus in 85%; HSV-2, Zika virus, Mumps, West Nile Virus, Influenza, Measles
    • Bacterial: Streptococcus pneumoniae, Neisseria meningitidis, Haemophilus influenza, Listeria monocytogenes, Staphylococcus aureus
    • Fungal: Cryptococcus, Blastomyces, Histoplasma, Coccidioides
    • Parasitic: Angiostrongylus cantonensis, Baylisascaris procyonis, Gnathostoma spinigerum
  • Have to do spinal tap for cerebrospinal fluid (CSF)
  • Matching symptoms: fatigue, headache, intestinal, irritability, lethargy
Encephalitis (Viral) - Inflammation of the brain
Transverse Myelitis (inflammation of the spinal cord)
  • Matching symptoms: bladder and bowel problems, numbness and coldness in legs, muscle spasms, headache, autonomic dysfunction
  • Infections: Varicella zoster, herpes simplex, EBV, influenza, echovirus, rubella, syphilis, Lyme, Mycoplasma, Parvovirus B19, Zika
  • Conditions: Can be caused by aquaporin-4 autoantibody associated neuromyelitis optica, multiple sclerosis, sarcoidosis, SLE, Sjogren’s syndrome, mixed connective tissue disease, scleroderma, Bechet’s syndrome, acute disseminated encephalomyelitis
  • Antibodies: aquaporin-4 (aka NMO), myelin oligodendrocyte glycoprotein (MOG)
Acute Disseminated Encephalomyelitis (ADEM) (demyelinating inflammation of both brain and spinal cord)
  • Demyelinating – damage to myelin sheath
  • Matching symptoms: headaches, irritability, fatigue, lethargy, nausea, numbness
  • Infections: influenza, measles, mumps, rubella, varicella-zoster, Epstein Barr virus, cytomegalovirus, and herpes simplex virus
  • Antibodies: Myelin basic protein (MBP) IgG, Myelin proteolipid protein (PLP or lipophilin) IgG, Myelin-associated oligodendrocytic basic protein (MOBP) IgG, Crystallin Alpha-B (CRYAB) IgG
MS (Multiple Sclerosis) - chronic inflammation of central nervous system
  • Matching symptoms: fatigue, numbness, bladder problems
  • HLA: DRB1*04:01 association
  • Infections: EBV, Acinetobacter, Pseudomonas aeruginosa, Measles, CMV, Chlamydia Pneumoniae, HSV 1 and 2, VZV
  • Antibodies: Myelin basic protein MBP (IgG, IgM), Myelin proteolipid protein PLP (IgG1, IgG3, IgM), Myelin oligodendrocyte glycoprotein (MOG) IgM, Myelin-associated oligodendrocytic basic protein (MOBP) IgM, α-enolase (ENO1) in 50%, Glyceraldehyde-3-phosphate dehydrogenase (GAPDH), Potassium Channel Kir4.1 (IgG), Gangliosides (IgM), Neurofascin, HSP60, Mycobacterial HSP65, Glycan (IgM), galactocerebroside
Crohn’s Disease - inflammatory bowel disease (IBD) - Chronic inflammation of the gastrointestinal tract
  • Matching symptoms: diarrhea, fatigue, nausea, vomiting
  • Chronic bleeding can lead to a low number of red blood cells (anemia)
  • Antibodies: Saccharomyces cerevisiae (ASCA) in 75%; α-enolase (ENO1) in 75%, HSP60, Mycobacterial HSP65 (HSP65 or Myco-specific HSP65 in 70%); Glycan, Transglutaminase, Laminaribioside IgG (ALCA), Mannobioside IgG (AMCA), Chitobioside IgA (ACCA), laminarin, chitin
  • HLA: DRB4*01:03 association
  • Infections: EBV, Mycobacterium avium subspecies paratuberculosis (MAP), Yersinia, Listeria, Helicobacter, E. coli
  • Often low albumin, high CRP, or high IL-6
Ankylosing Spondylitis – Form of arthritis, primarily affecting spine
  • Antibodies: Saccharomyces cerevisiae (ASCA), Protein phosphatase magnesium-dependent 1A (PPM1A)
  • Matching symptoms: fatigue, anemia
Papillary thyroid carcinoma – Most common type of thyroid cancer
  • HLA: DQ4 12.8% vs. 3.5%, DR8 10.9% vs. 4.3%
Barrett's esophagusacid reflux damages esophagus

Celiac disease autoimmune reaction in small intestines to gluten
  • HLA: DQB1*03:02: associated w CD
    • DQ8 (DQA1*03:01 - DQB1*03:02) association
    • DR4-DQ8 (DRB1*04:01 - DQA1*03:01 - DQB1*03:02) association
  • Antibodies: Saccharomyces cerevisiae in 35% adult patients, Neuronal in 49% of CD w/ neurological dysfunction; Actin, Calreticulin, Zonulin, Desmin, Tissue transglutaminase (tTG or TG2), Gliadin, Endomysial, Gluten, Reticulin
  • Associated with Peripheral Small Fiber Neuropathy
  • Infections: Enterovirus B, Hepatitis C virus, Rotavirus
  • Often Low CK Total levels
Holmes-Adie syndrome (Adie syndrome) and Ross syndrome
  • Starts with loss of deep tendon reflexes on one side of body
  • Matching symptoms: autonomic dysfunction, tonic pupils, orthostatic hypotension, headache, changes in heart rate and blood pressure from Valsalva maneuvers, diarrhea, difficulty regulating body temperature, excessive sweating
  • Infections: Parvovirus B19, Syphilis, Varicella, Lyme
  • Antibodies: anti-Hu (associated w/ small cell lung cancer)
Autoimmune Hemolytic anemiared blood cells destroyed faster than they’re produced
  • Could be a sign of persistent Parvovirus B19 infection
  • Matching symptoms: rapid heartbeat, headache, bloating, diarrhea, fatigue
  • RBC levels different for men/women
  • Antibodies: High Phosphatidylserine antibodies, anti-Jka, mitochondrial M5
  • Infections: Mycoplasma, Parvovirus B19, EBV
  • Warm antibody hemolytic anemiamost common type; presence of Warm-reactive (immunoglobulin G) antibodies (Direct Coombs)
  • Paroxysmal cold hemoglobinuria (aka Donath-Landsteiner hemolytic anemia, DLHA)
    • cold-reacting IgM (I don’t know if the test done before is for IgG or IgM, Labcorp results do not say)
  • Cold agglutinin diseasepresence of Cold agglutinin autoantibodies. Can have high MCH
Pure Red Blood Cell Aplasiadysfunctional bone marrow resulting in reduced RBCs (B19V)
  • Could be a sign of persistent Parvovirus B19 infection, which happens in immunodeficient host
  • Matching symptoms: fatigue, exercise intolerance, dizziness, headaches
  • Infections: Parvovirus B19
  • Antibodies: Erythropoietin
  • Testing: Hormone erythropoietin usually elevated; Reticulocyte count will be low. Patients infected with parvovirus B19 have a low reticulocyte count (0-1%); Leads to anemia, where RBC is low
  • Treatment: Treated effectively with high-dose intravenous immunoglobulins (IVIG)
    • Supposedly a hematologist works w/ this
Macrocytic Anemiaunusually large red blood cells
  • Associated with high MCH levels
  • Matching symptoms: exhaustion, diarrhea, numbness in hands and feet
Autoimmune Thrombocytopenia (Immune thrombocytopenic purpura, or idiopathic thrombocytopenic purpura, or Immune thrombocytopenia) – abnormally low platelet levels
  • Antibodies: Platelet antibodies, and associated with Antiphosphatidylserine (aPS)
  • Infections: Parvovirus B19, Zika virus
Thrombotic thrombocytopenic purpuraresults in blood clots in small blood vessels; low platelet count, low red blood cell count
  • Valacyclovir can cause this
  • Matching symptoms: headache
  • Leads to hemolytic anemia
  • Antibodies: anti-ADAMTS13 antibodies, Platelet membrane glycoprotein IIb/IIIa
Antiphospholipid Syndrome
  • Antibodies: Phosphatidylserine (aPS) in 68–86%; Mitochondrial M1 (Cardiolipin?), and M5, Cardiolipin, Phosphatidylserine-Prothrombin, Prothrombin, β2-glycoprotein I, Lupus anticoagulant
  • Infections: EBV, Haemophilus influenzae, Rubella, Toxoplasma gondii, CMV, hepatitis C
Atherosclerosis thick blood vessels restricting blood flow
  • Matching symptoms: numbness in arms and legs, unusual heart beat
  • Antibodies: oxidized LDL (OxLDL), HSP60, Mycobacterial HSP65, Coatomer Protein Complex Subunit Epsilon (COPE), Elastin, Endothelial cells (AECA)
  • Infections: Chlamydia pneumoniae, Mycoplasma pneumoniae, Porphyromonas gingivalis, influenza A virus, Enterobacter hormaechei, herpes simplex virus, EBV, parvovirus, enterovirus
Autoimmune HepatitispANCA antibodies in (35%), Actin antibodies in 52-85%
  • Infections: EBV
Guillain-Barre syndrome – immune system attacks peripheral nervous system (nerves on outside of brain and spinal cord)
  • Matching symptoms: Autonomic dysfunction, difficulty with bladder control or bowel function, rapid heart rate, low or high blood pressure, numbness, orthostatic hypotension
  • Can cause autonomic hyperactivity
  • Antibodies: Ganglioside antibodies in 50%; Myelin Basic Protein in 10%, also MOG; LM1 peripheral nerve myelin in 32%; Contactin (IgG2), Ribosomal P0 protein (anti-Rib-P0), Peripheral myelin protein 22, PMP22 (aka Growth arrest-specific protein 3, GAS-3), Heparan sulfate (IgG and IgM), N-Acetylgalactosamine (GalNAc), Galactocerebroside (GalC), Sulfatide, Beta tubulin, Neurofascin
  • Infection: Campylobacter jejuni, Influenza, EBV, Zika, Mycoplasma pneumonia, HSV, CMV, HHV-6, VZV, measles, Coxsackie, Rubella, Mumps, Lyme, Echovirus, Streptococcus, Parvovirus B19
Chronic inflammatory demyelinating polyneuropathy (CIDP) – A form of Guillain Barré syndrome and autoimmune neuropathy. Inflammation of peripheral nerves
  • Matching symptoms: numbness, fatigue
  • Most common in young adult men
  • Antibodies: Neurofascin, and specifically Neurofascin-155 IgG4 (5%?), Ganglioside in 20%; LM1 peripheral nerve myelin in 25%, Ribosomal P0 protein (anti-Rib-P0), Contactin 1 (CASPR1) (IgG4)
  • Infections: Zika virus, Campylobacter jejuni
Anti-MAG Peripheral Neuropathy – rare form of CIDP
  • Numbness and tingling. Ninety percent of patients are male, and most of them are in their 50s or 60s. However, it’s a long disease progression. If this was the only disease you had, you might not notice bad symptoms til much later in life.
Pure Autonomic Failure (Idiopathic orthostatic hypotension) - abnormal accumulation of synuclein in the brain
  • Matching symptoms: autonomic dysfunction, orthostatic hypotension, bladder dysfunction, diarrhea, constipation, dry mouth, fatigue, anemia
  • Sleep apnea and respiratory disturbances uncommon; Severe bladder dysfunction is seen more in MSA, than PAF; Most have decreased sense of smell
  • Usually lower hemoglobin and hematocrit….
  • Can lead to Multiple system atrophy. High Norepinephrine may be used to diagnose.
  • Antibodies: 20-40% can have ganglionic acetylcholine receptor antibodies (so some cases of Pure Autonomic Failure may represent chronic Autoimmune Autonomic Ganglionopathy)
  • Test for norepinephrine - https://www.walkinlab.com/products/view/catecholamines-blood-test-fractionated
Multiple system atrophy (MSA) - progressive brain disorder, intracellular accumulations of α-synuclein
  • Matching symptoms: constipation, loss of bladder control, autonomic dysfunction, cold hands and feet, agitated sleep and abnormal/interrupted breathing at night, snoring
  • Associated w/ Orthostatic hypotension
  • Antibodies: High TPO seen in MSA cerebral type
  • Gut bacteria: 39% association
  • Differentiated from Pure Autonomic Failure by norepinephrine, as MSA have normal levels
AA Amyloidosis (Autoimmune Amyloidosis, aka Secondary Amyloidosis)
  • Matching symptoms: severe fatigue, numbness, carpal tunnel syndrome, diarrhea, constipation, irregular heartbeat, palpitations, dizziness standing up, nausea
  • Conditions: Can be caused by multiple chronic inflammatory conditions, like rheumatoid arthritis, Crohn’s disease, ulcerative colitis, autoinflammatory, chronic infections
  • Serum amyloid A (SAA) in bloodstream for extended period of time causes this. Excessive buildup of this protein can lead to deposits in other organs like kidney, which causes organ to lose function
  • Associated with autonomic neuropathy
  • About half also have Rheumatoid Arthritis
Autoimmune-Associated Small-Fiber Polyneuropathy (aaSFPN)
  • Matching symptoms: Autonomic dysfunction, dysregulation of blood pressure, heart rate and gastrointestinal motility, numbness, bladder control issues, constipation, excessive or infrequent sweating, dry eyes and mouth
  • Antibodies: Fibroblast Growth Factor Receptor 3 (FGFR3), Trisulfated Heparin Disaccharide (TS-HDS); 52% have at least 1 of either Muscarinic cholinergic receptor 4 (47%), Beta-2 adrenergic (27%), Muscarinic cholinergic 3 (25%), and Beta-1 adrenergic (13%)
  • Infections: Coxsackie B, Influenza, Lyme, Campylobacter jejuni, Mycoplasma pneumoniae, EBV, West Nile virus, Herpes Simplex
  • Conditions: Associated with ME/CFS, Sjogren syndrome, Antiphospholipid syndrome, Celiac, Guillain-Barré syndrome, SLE, Rheumatoid arthritis, LEMS, Inflammatory bowel disease, Hashimoto’s, Monoclonal gammopathy of undetermined significance (MGUS), Sleep Apnea
Acute Autonomic and Sensory Neuropathy (AASN) - rare variant of immune-mediated acute peripheral neuropathy or ganglionopathy
  • Matching symptoms: diarrhea, hypohidrosis, dry mouth/eyes, non-reactive mid-sized pupils, orthostatic hypotension, low HRV, autonomic dysfunction, sleep apnea, cardiovascular dysfunction, urinary dysfunction, GI dysfunction
  • Antibodies: Sulfatide
  • Upper respiratory tract or gastrointestinal tract infection in two-thirds
  • Autonomic failure in all patients
  • Sensory ataxia (reduced coordination when the eyes are shut) increases over time
  • Small neuronal cells in the autonomic and sensory (dorsal root) ganglia are effected early on, then later the large neuronal cells
  • Infections: Herpes Simplex, EBV, Parvovirus B19, Coxsackie B, CMV
Anti-IgLON5 Encephalitis (aka Anti-IgLON5 disease, Autoimmune encephalitis w/ anti-IgLON5)
  • Sleep disorders: non-REM, OSA, central hypoventilation (shallow breathing), dysautonomia
  • Antibodies: anti-IgLON5 Ab (IgG4)
Vasculitis (autoimmune inflammation of blood vessel walls in the brain or spine)
  • Matching symptoms: numbness, fatigue, headache
  • Infections: Hepatitis B, Streptococcus, Klebsiella, Pseudomonas, Yersinia, HIV, Parvovirus B19, VZV, Echinococcus, Trichinella, Ascaris, Hepatitis C, EBV, CMV, Staphylococcus, Nocardia, Adenovirus, Herpes Simplex, Mycoplasma, Measles, Chlamydia Pneumoniae, Bartonella, Coxiella burnetii, Candida, Parainfluenza virus, Lyme, Campylobacter
  • Large Vessel
    • Polymyalgia Rheumatic
    • Takayasu’s Arteritis
      • Endothelial Cell (AECAs) targeting: HSP60
    • Giant Cell Arteritis (Temporal arteritis)
      • Endothelial Cell (AECAs) targeting: Lamin A/C (LMNA), Peroxyredoxin 2
  • Medium Vessel
    • Buerger’s Disease
    • Cutaneous Vasculitis
    • Kawasaki Disease
    • Polyarteritis Nodosa
      • Endothelial Cell (AECAs) targeting: Hsp60, Peroxiredoxin 2
  • Small Vessel
    • Behçet's syndrome
      • Endothelial Cell (AECAs) targeting: α-Enolase, RLIP76
    • Churg-Strauss syndrome
    • Cutaneous vasculitis
    • IgA vasculitis (Henoch-Schönlein purpura)
    • Microscopic polyangiitis
      • Endothelial Cell (AECAs) targeting: MPO ANCA, ATP synthase, HLMP2, Peroxiredoxin 2, Lamin A/C (LMNA), Vimentin, Far upstream binding protein 2 (FUBP2), Protein Disulfide Isomerase A3 (PDIA3)
    • Granulomatosis with polyangiitis
      • Endothelial Cell (AECAs) targeting: Proteinase 3, MPO ANCA, Peroxiredoxin 2, ATP synthase, HSP60
    • Golfer's vasculitis
    • Cryoglobulinemia
  • Antibodies: ANCA, Aorta, Ferritin, Annexin V, Monocyte, C1q, GBM, Cryoglobulin, RF
    • Endothelial cells, AECA targeting: HSP60, Tropomyosin, T-plastin, ATP (adenosine triphosphate) synthase, Lamin A
Immunoglobulin A (IgA) Nephropathy (Berger's disease) – Chronic kidney disease, immunoglobulin A (IgA) antibody builds up in kidneys, collecting on glomeruli, causing inflammation (glomerulonephritis) - IgA1 Immune Complex
  • Matching symptoms:
  • Celiac disease can trigger this
  • HLA: DR4 (DRB1*04:01) association
  • Antibodies: Glycan, Endothelial cells (AECA), Mesangial cell, Dextran, GBM
  • Often abnormal Creatinine blood levels
Anti-NMDAR Encephalitis
  • Matching symptoms: autonomic dysfunction, fatigue, headache
  • Antibodies: NMDAR Subunit NR1 (IgG)
Polymyositis
  • Matching symptoms: fatigue, abdominal spasms
  • HLA: B*08:01: association w/ Polymyositis as well as association with Anti-Jo-1 associated Myositis
  • Anti-Jo 1 Antibodies in 20-30%; Anti-Mi-2 in 10 – 15%; there are others,
Glomerulonephritis (GN) - Inflammation of the glomeruli, structures in kidneys
  • Linked to high APO Strep titres
  • Conditions: Can be caused by SLE, Goodpasture syndrome, amyloidosis, granulomatosis with polyangiitis, polyarteritis nodosa
  • Antibodies: ASO from Strep, glomerular basement membrane (anti-GBM), Anti-neutrophil cytoplasmic antibodies, Anti-endothelial cell antibodies (AECA), dsDNA, protein disulfide isomerase (PDI), cardiac myosin, C3 nephritic factor (C3NeF), Anti-C1q antibodies, Phospholipase A2 receptor (PLA2R) in 70% w/ membranous glomerulonephritis (NEGATIVE GBM, ANCA, and PLA2R)
Goodpasture’s disease - glomerulonephritis and renal failure (anti-GBM disease)
  • Antibodies: glomerular basement membrane (anti-GBM)
Autoimmune Autonomic Ganglionopathy (acute pandysautonomia, autoimmune autonomic neuropathy, idiopathic subacute autonomic neuropathy)
  • Symptoms: Orthostatic Hypotension, constipation and GI dysmotility, bladder dysfunction, dry mouth, dry eyes, dilated pupils, diarrhea, Anhidrosis (decreased ability to sweat), often preceded by excessive sweating, numbness, vomiting, fatigue, irregular heartbeat
  • Antibodies: 50% have high titers of g-AChR (alpha 3) antibodies. Antibody levels correlate w/ severity of autonomic dysfunction. Some have gAChRβ4 antibodies, but most have alpha 3 as well
  • Comorbidities include Hashimoto’s, Sjögren's syndrome, tumors
Deep Vein Thrombosis (DVT) – D-Dimer test

Pericarditis (inflammation of thing surrounding the heart)
  • Matching symptoms: Palpitations, fatigue
  • Usually abnormal ESR and CRP levels
Motor neuron disease (MND)

Rheumatoid Arthritis
  • Matching symptoms: Autonomic dysfunction (precedes RA), fatigue
  • Antibodies: Rheumatoid Factor found in 80%; Cyclic citrullinated peptide (CCP) antibody found in 60-70%
  • HLA: DRB4*01:03 association
    • DRB1*04:01 association
    • DR4-DQ8 (DRB1*04:01 - DQA1*03:01 - DQB1*03:02) association
  • High IL-10 association
  • Infection: EBV, Proteus mirabilis, Klebsiella pneumoniae, Escherichia coli (bacteria), mycobacteria
  • Linked to abnormal CK Total levels?
Sjögren's syndromeANA in 80%, and C-reactive protei
  • SSA 52 kD (Ro52) IgG antibodies, SS-A and SS-B found in >80% SS
  • Bilateral Tonic Pupils may be an initial sign of SS manifestation
  • Infections: EBV, Coxsackie
Systemic lupus erythematosus (SLE) – Usually has high IL-10, but ANA is almost always positive (98%)
  • Antibodies: SSA 52 kD (Ro52) IgG antibodies; dsDNA IgG in 60% SLE
    • Anti-U1A autoantibodies (P = 0.01), U1A might not be the same as U1
    • mitochondrial RNA (AmtRNA)
    • Phosphatidylserine/Prothrombin ab in 31% SLE
    • Saccharomyces cerevisiae antibodies found in 32%
  • HLA: DR8 (DRB1*08:01) association
  • Infections: EBV, Toxoplasma gondii, Rubella, CMV, Parvovirus B19
Scleroderma (Systemic Sclerosis)Antinuclear antibodies (ANA) are present in ≥ 90% of patients
  • Matching symptoms: hair loss, diarrhea, constipation
  • Antibodies: centromere, scleroderma-70, RNA polymerase III-70, SSA 52 kD IgG antibodies
    • Phosphatidylserine/Prothrombin ab in 17% SS
  • HLA: DRB1*04:01 association w/ Anticentromere autoantibody (ACA) in Scleroderma
    • DRB1*08:01 same as above
  • High IL-10 association
  • Barrett esophagus occurs in 1/3 of patients
Localized Scleroderma (LSc)stiff skin
  • Phosphatidylserine/Prothrombin ab in 17% LSc
Kawasaki diseaseUsually in kids
  • High IL-10
Primary Biliary Cholangitis, PBC (formerly Primary Biliary Cirrhosis) – Autoimmune destruction of bile ducts in liver – anti-mitochondrial antibodies 2
  • HLA: DRB1*08:01 association
    • DRB4*01:03 association
Grave's disease - Thyroid-Stimulating Immunoglobulin (TSI) and Thyroid stimulating hormone receptor antibody (TRAb)
  • Saccharomyces cerevisiae antibodies found in 12%
  • HLA: C*07:01 associated
    • B*08:01 associated
    • DR8 (DRB1*08:01) associated
Lambert-Eaton myasthenic syndrome (LEMS)Immune system attacks calcium channels on nerve endings. Cases are half paraneoplastic (cancer) and half idiopathic (non-cancer)
  • Matching symptoms: dysautonomia, dry mouth, dry eyes, constipation
  • Avg age of onset is 35
  • HLA: HLA-B*08:01 very strong predictor of non-paraneoplastic LEMS (NP-LEMS)
  • Antibodies: P/Q-type voltage-gated calcium channels (anti-VGCC Ab) in 90%; Also N-type in 30%
Pernicious Anemianot enough healthy red blood cells
  • Matching symptoms: fatigue, headaches, numbness in arms and legs
  • Associated with high MCV levels
  • Parietal cell antibodies >90% patients
Autoimmune Neutropenia – decreased neutrophil count
  • Anti-neutrophil antibodies (IgG)
Myasthenia gravis – weakness in skeletal muscles
  • Antibodies: Acetylcholine receptor (AChR) in 90%; MusK (muscle-specific tyrosine kinase); Striational (Striated Muscle) in 30%
  • HLA: HLA-B*08:01 - Early-onset myasthenia gravis (EOMG) – 33% vs 13% in HC
    • DRB4*01:03 association
  • Infections: HSV

X-linked lymphoproliferative syndrome (Duncan’s disease)
  • Inherited disorder, associated w/ severe EBV
Autoimmune atrophic gastritis – Destruction of parietal cells in stomach
  • Matching symptoms: abdominal spasms, anemia symptoms, tiredness, exercise intolerance, palpitations, GI symptoms, nausea, vomiting, blood in vomit
  • Likely to have Hashimoto’s
  • Antibodies: Gastric parietal cell in 70%
  • Infections: Usually H Pylori
  • Results in vitamin B12 deficiency and pernicious anemia
Ulcerative Colitis
  • Symptoms: fatigue, diarrhea, nausea, anemia, blood, abdominal pain
  • Antibodies: Saccharomyces cerevisiae (ASCA) in 15%; HSP60; ANCA in 50%-85%; pANCA antibodies
Behcet's disease - vasculitis (blood vessel inflammation), damaging arteries and veins (Usually sores in mouth, skin, and/or genitals)
  • Antibodies: Saccharomyces Cerevisiae more prevalent in BD than in Ulcerative Colitis, but less than in Crohn’s disease; Annexin V, Phosphatidylserine, Ribosomal phosphoprotein, α-enolase (ENO1) (45%), HSP60, Endothelial cells (AECA), RLIP76 (ral-binding protein, RalBP1)
  • Commonly effects men in 20s and 30s; is more severe in men
  • Infections: Parvovirus B19, EBV, varicella zoster, streptococcal antigens, Saccharomyces cerevisiae, mycobacteria, Borrelia burgdorferi, Helicobacter pylori, Escherichia coli, Staphylococcus aureus, Mycoplasma fermentans
Sarcoidosis – Inflamed tissue (granulomas) in organs
  • Matching symptoms: fatigue, irregular heartbeat, palpitations
  • Infections: Propionibacterium acnes, Mycobacterial, Pseudomonas aeruginosa, E. Coli
  • Antibodies: ANA, Rheumatoid Factor, cyclic citrullinated peptide, dsDNA, beta2-glycoprotein, TPO, TgAb, C3, C4, mutated citrullinated vimentin
Tonsillar/Adenotonsillar Hypertrophy
 
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