Este texto mostra algumas doenças e associacoes microbianas e geneticas em doenças comuns. Foi compilado por gajos que sabem disto.
As pessoas com estas doenças deviam ser diagnosticadas por esta via.
As vezes é preciso acertar no medico tambem.
Por ex, ha uns meses li no resumo do encontreo de 2018 da sociedade portuguesa de neurologia que certas pessoas com patologias chatas e numa primeira consulta for diagnosticadas com depressao.
Mas antes nao tinham problemas.
Vao medicadas para casa com um antidepressivo.
Mas é so quando a pessoa bate o pé que investigam melhor.
Por exemplo num dos casos, a pessoa estava depressiva, nao comia e ficou com andar lento.
Depois de uma exaustiva investigacao, descobriu-se que a pessoa estava perante uma exposicao toxica no trabalho, na industria do calçado. Esta pessoa estava a respirar cola com hexano-n na fabrica de calçado.
Bom isto é um exemplo.
Se a mulher nao batesse o pé iria ficar doente para a vida sem saber porquê.
Por ex, um amigo meu trabalhava numa instituicao financeira.
Quando mudou de sitio foi parar a uma mesa num determinado local da sala.
Uns dias depois, brutais enxaquecas, semi amnesia, falta de foco, fadiga extrema.
Eu perguntei lhe algumas coisas sobre a casa dele e ele dizia que em casa sentia-se bem.
Entao pedi-lhe fotos do escritorio. Qual era a cena? A mesa dele ficava mesmo a frente dum quadro electrico cheio de circuitos de alto a baixo. Eu disse lhe que era daquilo e perguntei lhe se o mau estarncomecou quando ele foi para aquele sitio e ele confirmou que sim.
Mudou de sitio e os sintomas foram-se.
O que quero dizer é que se uma pessoa está bem e fica mal, algo mudou. A pessoa passou a estar exposta a algo novo.
Deixo aqui a lista das doenças associadas a microbios
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
Infections: More than 90% of viral encephalitis is caused by HSV, VZV, and enterovirus Also been linked to Parvovirus B19, EBV may cause or contribute; Zika virus
MRI scan, spinal tap
Antibodies: Caspr2, Myelin Oligodendrocyte Glycoprotein (MOG)
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 esophagus – acid 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 anemia – red 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 anemia – most 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 disease – presence of Cold agglutinin autoantibodies. Can have high MCH
Pure Red Blood Cell Aplasia – dysfunctional 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 Anemia – unusually 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 purpura – results 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 Hepatitis – pANCA 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-fractionatedMultiple 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
Co-existing auto-antibodies: VGCC (N and P/Q Type), VGKC, AChR, Striational
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 syndrome – ANA 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 disease – Usually 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 Anemia – not 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
Tonsil and/or adenoid enlargement can cause Obstructive Sleep Apnea (OSA)
Matching symptoms: Sleep apnea, fatigue, sore throat, repeated sinus infection
Infections: 39% tonsil disease patients had co-infection of adenovirus and EBV in tonsils; 46% tonsillitis patients had EBV in tonsils; 43% tonsillectomy patients had EBV in tonsils
Testing: Throat swab culture for bacteria
