Tolerance, ANA and systemic autoimmunity
16 min
- Distinguish central from peripheral mechanisms of self-tolerance
- Interpret an ANA pattern and titer without assigning an unmeasured specificity
- Match systemic autoantibodies such as ANA, anti-dsDNA, and anti-Sm to their diseases
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How tolerance fails
Central tolerance acts during lymphocyte development in the thymus and bone marrow, where many self-reactive cells are deleted or edited. Some self-reactive cells still reach the periphery. There, inadequate costimulation leaves them anergic, and inhibitory receptors and regulatory T cells restrain them. Autoimmune disease can follow a failure at one or more of these checkpoints.1
Reading an ANA
Indirect immunofluorescence on HEp-2 cells is the reference ANA screen. Patient serum is incubated on fixed HEp-2 cells, developed with fluorescein-labeled anti-human immunoglobulin and read at 400×, usually at a screening dilution of 1:80 to 1:160.1,2 The report states the endpoint titer and the pattern, named by the International Consensus on ANA Patterns (ICAP) with its AC code.2
A pattern narrows the possible antibodies. It does not identify one, and each specific antibody is reported from its own assay.3,4
| Pattern | Look in interphase nuclei | Specificities it suggests |
|---|---|---|
| Homogeneous (AC-1) | Even, diffuse staining | dsDNA, histones, nucleosomes |
| Coarse speckled (AC-5) | Coarse granules | Sm, U1 RNP |
| Fine speckled (AC-4) | Fine granules | SS-A/Ro, SS-B/La |
| Centromere (AC-3) | About 40 to 80 discrete dots | Centromere proteins A, B and C |
| Dense fine speckled (AC-2) | Dense fine speckles, with bright chromosomes in dividing cells | DFS70 |
A confirmed anti-DFS70 with negative disease-specific antibodies is associated with a lower likelihood of systemic autoimmune rheumatic disease when clinical suspicion is low.6
Matching antibodies to systemic disease
ANA is present in most people with systemic lupus erythematosus (SLE), so it is a sensitive screen. It also occurs in other autoimmune diseases, infections, some cancers, pregnancy and healthy people, more often with age and at lower screening dilutions.3 A positive ANA alone therefore does not mean SLE. The 2019 EULAR/ACR classification criteria use an ANA of at least 1:80 on HEp-2 cells only as the entry point.5
Specific antibodies add weight:3,4
- Anti-dsDNA and anti-Sm support SLE.
- Anti-SS-A/Ro supports Sjögren disease and also occurs in SLE.
- Anti-centromere fits limited cutaneous systemic sclerosis, and anti-Scl-70 fits systemic sclerosis.
- Anti-histone fits drug-induced lupus.
Complement, renal findings and blood counts show organ involvement.5
References
- Abbas AK, Lichtman AH, Pillai S, Henrickson S. Cellular and Molecular Immunology. 11th ed. Elsevier; 2025.
- Damoiseaux J. The International Consensus on ANA Patterns (ICAP): from conception to implementation. Clin Chem Lab Med. 2024;62(5):789-792. doi:10.1515/cclm-2023-1211
- Castro C, Gourley M. Diagnostic testing and interpretation of tests for autoimmunity. J Allergy Clin Immunol. 2010;125(2 suppl 2):S238-S247. doi:10.1016/j.jaci.2009.09.041
- ARUP Laboratories. Connective tissue diseases. ARUP Consult. Accessed September 27, 2026. https://arupconsult.com/content/connective-tissue-diseases
- Aringer M, Costenbader K, Daikh D, et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Arthritis Rheumatol. 2019;71(9):1400-1412. doi:10.1002/art.40930
- International Consensus on ANA Patterns. AC-2: nuclear dense fine speckled. Updated August 2025. Accessed September 27, 2026. https://www.anapatterns.org/view_pattern.php?pattern=2
Watch one
Serum is screened for ANA by indirect immunofluorescence on HEp-2 cells and titrated to its endpoint. The positive control shows its expected pattern and titer, and the negative control is dark.
How do you report this ANA?
| Test | Result | Previous | Reference interval | Flag |
|---|---|---|---|---|
| ANA screen, 1:80 | Positive | Negative | ||
| ANA, 1:160 to 1:1,280 | Positive at each dilution | Negative | ||
| ANA, 1:2,560 | Negative | Negative | ||
| Interphase nuclei | About 50 discrete bright dots per nucleus | |||
| Dividing cells | Dots lined up along the condensed chromosomes |
Specimen: H 2, L 3, I 1. Serum, HEp-2 indirect immunofluorescence
- Check the controls: the positive control shows its expected pattern and titer, and the negative control is dark.
A patient's pattern and titer count only on a run whose controls behaved.
- Read the screen: nuclear fluorescence at 1:80, so the ANA is positive.
The screening dilution decides positive or negative.
- Look at the interphase nuclei: about 50 discrete bright dots in each nucleus.
Discrete dots numbering about 40 to 80 set the centromere pattern apart from speckled patterns.
- Look at the dividing cells: the dots line up along the condensed chromosomes.
The centromere pattern shows its dots aligned on the chromosomes of dividing cells.
- Find the endpoint: positive through 1:1,280 and negative at 1:2,560.
The report gives the highest dilution that still shows the pattern.
- Check what else was run: no antigen-specific assay.
The pattern suggests anti-centromere antibody, and only an antigen-specific assay can report it.
Your turn
Use it
- Serum from Marguerite Vail, 63, MRN 6120457, comes in for an ANA ordered for fatigue. Nothing on the requisition suggests a connective tissue disease.
- HEp-2 indirect immunofluorescence is positive at the 1:80 screen, with an endpoint of 1:320. Interphase nuclei show dense fine speckles, and the chromosomes of dividing cells stain brightly.
- The laboratory's algorithm sends this pattern for an anti-DFS70 assay, which is positive.
- The anti-dsDNA and extractable nuclear antigen panel ordered with the ANA are negative.
The clue that settled it is the confirmed anti-DFS70 beside negative disease-specific antibodies:
- Dense fine speckled pattern, confirmed as anti-DFS70
- Anti-dsDNA and the extractable nuclear antigen panel negative
- Nothing on the requisition suggests a connective tissue disease
The report gives the ANA titer and pattern and the anti-DFS70 result, each from its own assay. With strong clinical suspicion, the clinician can still order further antigen-specific tests.
Results
- Distinguish central from peripheral mechanisms of self-tolerance
- Interpret an ANA pattern and titer without assigning an unmeasured specificity
- Match systemic autoantibodies such as ANA, anti-dsDNA, and anti-Sm to their diseases
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