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PubMed This is a summary of 16 peer-reviewed journal articles Updated
Rheumatology

Building Your Care Team and First Visit Prep

At a Glance

Because Nakajo-Nishimura syndrome is ultra-rare and may require care across several specialties, families should build a coordinated team and bring a symptom timeline, flare photographs, complete genetic and test reports, and growth records to the first specialist visit.

Because Nakajo-Nishimura Syndrome (NNS) is an “ultra-rare” disease, you may find that you quickly become the person in the room who knows the most about it [1]. This is why building a specialized care team is the most important step you can take. Your or your child’s health depends on a group of doctors who understand interferonopathies and can work together across different medical specialties [1][2].

The Core Specialists

A person with NNS (or any condition under the PRAAS umbrella) should ideally be followed by a team that includes:

  • Rheumatologist: This is usually the care coordinator of the team. They should have specific expertise in monogenic autoinflammatory diseases and be comfortable managing JAK inhibitors [1][3].
  • Clinical Immunologist: They monitor the immune system to ensure the medications aren’t making patients too vulnerable to infections and check for signs of hypogammaglobulinemia (low antibody levels) [2][4].
  • Medical Geneticist: Because the genetics of PRAAS are complex—involving not just the PSMB8 gene but several others—a geneticist is vital for interpreting test results and counseling the family [5][6].
  • Physical and Occupational Therapists: These specialists are essential for managing joint contractures and muscle weakness early on [1][7].
  • Other Specialists: Depending on specific symptoms, you may also need a dermatologist (skin), nephrologist (kidneys), neurologist (brain/movement), and ophthalmologist (eyes) [1][8].

Finding an Expert

When looking for a lead doctor, don’t be afraid to ask about their experience. NNS is too rare for every rheumatologist to have seen it, but they should be familiar with the “interferon signature” and the use of targeted therapies [3][9].

Many families choose to travel to a “Center of Excellence” or a university-affiliated hospital that participates in registries or networks like the Autoinflammatory Diseases Alliance (AIDA) or Eurofever [10][11]. While these are networks rather than guaranteed clinical centers, physicians connected to them are often at the forefront of research and can provide a level of expertise that local clinics may lack [12].

Preparing Your “Diagnostic Portfolio”

To make the most of your first visit with a specialist, come prepared with a organized “portfolio” of medical history. This helps the doctor recognize the clinical pattern more quickly [8].

  1. The Visual History: Bring high-quality, clear photographs of rashes, skin lesions, and joint changes [7][13]. Photos taken during a “flare” are especially helpful [8].
  2. The Symptom Timeline: Create a concise list of when symptoms first started. Include the age at the first fever, when you first noticed fat loss, and any history of recurrent infections or hospitalizations [7][8].
  3. Complete Genetic Reports: Bring the full, multi-page report from the laboratory, not just a summary letter. Discuss reanalysis or parental testing with a clinical geneticist or genetic counselor [5][6][14].
  4. Growth and Development Records: Bring growth charts and notes on any developmental delays or school challenges [13][8].
  5. Biopsy and Imaging Results: If there has been a skin biopsy, bring the pathology report. If there have been brain or abdominal scans, bring the radiologist’s reports [15][13].

By arriving with this documentation, you move the conversation from “what could this be?” to “how do we best treat this?” [16]. This preparation empowers you to be a true care partner in the management of the condition.

Common questions in this guide

Which specialists should be on a Nakajo-Nishimura syndrome care team?
Care commonly includes a rheumatologist experienced with rare inherited inflammatory diseases, a clinical immunologist, and a medical geneticist. Physical and occupational therapists can address contractures and weakness, while dermatology, nephrology, neurology, or ophthalmology may be added for specific symptoms.
How should I prepare for my first specialist appointment for NNS?
Bring clear photographs of rashes and other changes, especially during a flare, plus a timeline of fevers, fat loss, infections, hospitalizations, and other symptoms. Also bring complete genetic reports, growth and development records, and biopsy or imaging reports.
What should I ask a doctor before choosing them to manage NNS?
Ask how much experience they have with rare autoinflammatory diseases and interferon-related conditions, whether they understand targeted treatments, and how they coordinate multiple specialists. You can also ask whether they consult with expert networks or university-affiliated centers when cases are complex.
Why should I meet with a clinical geneticist or genetic counselor for NNS?
NNS and related conditions can involve more than one gene, so a specialist can explain the full genetic report rather than only its summary. They can also discuss whether testing should be reanalyzed or extended to parents and what the results may mean for family members.
How can I find an expert for Nakajo-Nishimura syndrome?
Look for a rheumatologist or university-affiliated hospital with experience in interferonopathies and targeted therapies. Networks such as the Autoinflammatory Diseases Alliance and Eurofever may help connect clinicians, but participation does not by itself guarantee that a site is a clinical center or that it has NNS expertise.
How should I communicate with the care team about a flare or medication side effect?
Ask the care team how to communicate between visits when a flare or medication side effect is suspected. Keep an accessible file with symptom photos, dates, relevant treatment information, and test results so the team can review what changed.

Get notified when new evidence is published on Nakajo-Nishimura syndrome.

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References

References (16)
  1. 1

    The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.

    Cetin Gedik K, Lamot L, Romano M, et al.

    Arthritis & rheumatology (Hoboken, N.J.) 2022; (74(5)):735-751 doi:10.1002/art.42087.

    PMID: 35315249
  2. 2

    Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

    Wijngaard R, van der Made CI, Kalkan Uçar S, et al.

    American journal of human genetics 2026; (113(6)):1214-1232 doi:10.1016/j.ajhg.2026.04.015.

    PMID: 42167218
  3. 3

    JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

    Sanchez GAM, Reinhardt A, Ramsey S, et al.

    The Journal of clinical investigation 2018; (128(7)):3041-3052.

    PMID: 29649002
  4. 4

    Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

    Kanazawa N, Hemmi H, Kinjo N, et al.

    Nature communications 2021; (12(1)):6819 doi:10.1038/s41467-021-27085-y.

    PMID: 34819510
  5. 5

    Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

    Brehm A, Liu Y, Sheikh A, et al.

    The Journal of clinical investigation 2015; (125(11)):4196-211.

    PMID: 26524591
  6. 6

    Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).

    Papendorf JJ, Ebstein F, Alehashemi S, et al.

    Frontiers in immunology 2023; (14()):1190104 doi:10.3389/fimmu.2023.1190104.

    PMID: 37600812
  7. 7

    Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes.

    Ohmura K

    Journal of inflammation research 2019; (12()):259-265 doi:10.2147/JIR.S194098.

    PMID: 31576159
  8. 8

    Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature Syndrome: A Systemic Review.

    Altom A, Khader SAE, Gad AG, et al.

    The American Journal of dermatopathology 2023; (45(6)):355-370 doi:10.1097/DAD.0000000000002345.

    PMID: 37191371
  9. 9

    Development of a Validated Interferon Score Using NanoString Technology.

    Kim H, de Jesus AA, Brooks SR, et al.

    Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research 2018; (38(4)):171-185 doi:10.1089/jir.2017.0127.

    PMID: 29638206
  10. 10

    The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases.

    Gaggiano C, Vitale A, Tufan A, et al.

    Frontiers in medicine 2022; (9()):980679 doi:10.3389/fmed.2022.980679.

    PMID: 36160138
  11. 11

    Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.

    Ter Haar NM, Eijkelboom C, Cantarini L, et al.

    Annals of the rheumatic diseases 2019; (78(10)):1405-1411 doi:10.1136/annrheumdis-2018-214472.

    PMID: 31278138
  12. 12

    ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

    Shinar Y, Ceccherini I, Rowczenio D, et al.

    Clinical chemistry 2020; (66(4)):525-536 doi:10.1093/clinchem/hvaa024.

    PMID: 32176780
  13. 13

    A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.

    Jia T, Zheng Y, Feng C, et al.

    BMC medical genetics 2020; (21(1)):126 doi:10.1186/s12881-020-01060-8.

    PMID: 32513120
  14. 14

    Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

    Di Donato G, d'Angelo DM, Breda L, Chiarelli F

    International journal of molecular sciences 2021; (22(12)) doi:10.3390/ijms22126360.

    PMID: 34198614
  15. 15

    Panniculitis: A Cardinal Sign of Autoinflammation.

    Borges T, Silva S

    Current rheumatology reviews 2024; (20(4)):350-360 doi:10.2174/0115733971254702231020060633.

    PMID: 37921131
  16. 16

    The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

    Cetin Gedik K, Lamot L, Romano M, et al.

    Annals of the rheumatic diseases 2022; (81(5)):601-613 doi:10.1136/annrheumdis-2021-221814.

    PMID: 35086813

This page is for informational purposes only and does not constitute medical advice about Nakajo-Nishimura syndrome. A qualified specialist team should tailor evaluation, treatment, and follow-up to the patient’s symptoms and needs.

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