James W, Elston DM, Treat J, Rosenbach M, Micheletti R. Andrews’ diseases of the skin. 13th ed. Amsterdam: Elsevier; 2019.

Google Scholar 

Tadini G, Brena M, Gelmetti C, Pezzani L. Atlas of genodermatoses. 2nd edn. 2015.

Bolognia J, Schaffer J, Cerroni L. Dermatology. 4th ed. Amsterdam: Elsevier; 2017.

Google Scholar 

Suárez-Fariñas M, Ungar B, Noda S, Shroff A, Mansouri Y, Fuentes-Duculan J, et al. Alopecia areata profiling shows TH1, TH2, and IL-23 cytokine activation without parallel TH17/TH22 skewing. J Allergy Clin Immunol. 2015;136:1277–87.

PubMed  Article  CAS  Google Scholar 

Zhou C, Li X, Wang C, Zhang J. Alopecia areata: an update on etiopathogenesis, diagnosis, and management. Clin Rev Allergy Immunol. 2021;61:403–23.

PubMed  Article  Google Scholar 

McKenzie PL, Castelo-Soccio L. Dupilumab therapy for alopecia areata in pediatric patients with concomitant atopic dermatitis. J Am Acad Dermatol. 2021;84:1691–4.

PubMed  Article  Google Scholar 

Harries MJ, Sun J, Paus R, King LE. Management of alopecia areata. BMJ. 2010;341: c3671.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Ständer S, Trense Y, Thaçi D, Ludwig RJ. Alopecia areata development in atopic dermatitis patients treated with dupilumab. J Eur Acad Dermatol Venereol. 2020;34:e612–3.

PubMed  Google Scholar 

Barbarin C, Hosteing S, Nosbaum A, Allouchery M, Celerier P. Early onset of alopecia areata after dupilumab introduction in a patient with atopic dermatitis. Eur J Dermatol. 2019;29:542–3.

PubMed  Article  Google Scholar 

Carnicle JM, Hendricks AJ, Shi VY. Reactivation of alopecia areata after dupilumab therapy for atopic dermatitis. Dermatitis. 2021;32:e80–2.

PubMed  Article  Google Scholar 

Mitchell K, Levitt J. Alopecia areata after dupilumab for atopic dermatitis. JAAD Case Rep. 2018;4:143–4.

PubMed  PubMed Central  Article  Google Scholar 

Kulkarni M, Rohan C, Morris D, Travers J. Resolution of dupilumab-associated alopecia areata with dosage modification. JAAD Case Rep. 2022;22:85–8.

PubMed  PubMed Central  Article  Google Scholar 

King B, Ko J, Forman S, Ohyama M, Mesinkovska N, Yu G, et al. Efficacy and safety of the oral Janus kinase inhibitor baricitinib in the treatment of adults with alopecia areata: phase 2 results from a randomized controlled study. J Am Acad Dermatol. 2021;85:847–53.

CAS  PubMed  Article  Google Scholar 

King B, Guttman-Yassky E, Peeva E, Banerjee A, Sinclair R, Pavel AB, et al. A phase 2a randomized, placebo-controlled study to evaluate the efficacy and safety of the oral Janus kinase inhibitors ritlecitinib and brepocitinib in alopecia areata: 24-week results. J Am Acad Dermatol. 2021;85:379–87.

CAS  PubMed  Article  Google Scholar 

Becker ML, Martin TM, Doyle TM, Rosé CD. Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. Arthritis Rheum. 2007;56:1292–4.

CAS  PubMed  Article  Google Scholar 

Imayoshi M, Ogata Y, Yamamoto S. A case of sporadic Blau syndrome with an uncommon clinical course. Case Rep Rheumatol. 2018;2018:6292308.

PubMed  PubMed Central  Google Scholar 

Nagakura T, Wakiguchi H, Kubota T, Yamatou T, Yamasaki Y, Nonaka Y, et al. Tumor necrosis factor inhibitors provide longterm clinical benefits in pediatric and young adult patients with Blau Syndrome. J Rheumatol. 2017;44:536–8.

CAS  PubMed  Article  Google Scholar 

PaÇKisaarslan A, SÖzerİ B, Şahİn N, ÖzdemİrÇİÇek S, GÜndÜz Z, Demİrkaya E, et al. Blau syndrome and early-onset sarcoidosis: a six case series and review of the literature. Arch Rheumatol. 2020;35:117–27.

Article  Google Scholar 

Toral-López J, González-Huerta LM, Martín-Del Campo M, Messina-Baas O, Cuevas-Covarrubias SA. Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab. Pediatr Dermatol. 2018;35:e180–3.

PubMed  Article  Google Scholar 

Milman N, Andersen CB, Hansen A, van Overeem HT, Nielsen FC, Fledelius H, et al. Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. APMIS. 2006;114:912–9.

PubMed  Article  Google Scholar 

La Torre F, Lapadula G, Cantarini L, Lucherini OM, Iannone F. Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature. Clin Rheumatol. 2015;34:391–5.

PubMed  Article  Google Scholar 

Otsubo Y, Okafuji I, Shimizu T, Nonaka F, Ikeda K, Eguchi K. A long-term follow-up of Japanese mother and her daughter with Blau syndrome: effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination. Mod Rheumatol. 2017;27:169–73.

PubMed  Article  Google Scholar 

Martin TM, Zhang Z, Kurz P, Rosé CD, Chen H, Lu H, et al. The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. Arthritis Rheum. 2009;60:611–8.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Millington GWM, Dobson J, Holden S, Waters G, Puvanachandra N, Close R, et al. Sporadic Blau syndrome treated with adalimumab. Clin Exp Dermatol. 2019;44:811–3.

CAS  PubMed  Article  Google Scholar 

Jindal AK, Pilania RK, Suri D, Gupta A, Gattorno M, Ceccherini I, et al. A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review. Rheumatol Int. 2021;41:173–81.

CAS  PubMed  Article  Google Scholar 

Achille M, Ilaria P, Teresa G, Roberto C, Ilir A, Piergiorgio N, et al. Successful treatment with adalimumab for severe multifocal choroiditis and panuveitis in presumed (early-onset) ocular sarcoidosis. Int Ophthalmol. 2016;36:129–35.

PubMed  Article  Google Scholar 

Caracseghi F, Izquierdo-Blasco J, Sanchez-Montanez A, Melendo-Perez S, Roig-Quilis M, Modesto C. Etanercept-induced myelopathy in a pediatric case of Blau syndrome. Case Rep Rheumatol. 2011;2011: 134106.

PubMed  Google Scholar 

Lu L, Shen M, Jiang D, Li Y, Zheng X, Li Y, et al. Blau syndrome with good responses to tocilizumab: a case report and focused literature review. Semin Arthritis Rheum. 2018;47:727–31.

PubMed  Article  Google Scholar 

Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009;360:2416–25.

CAS  PubMed  Article  Google Scholar 

Lachmann HJ, Lowe P, Felix SD, Rordorf C, Leslie K, Madhoo S, et al. In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes. J Exp Med. 2009;206:1029–36.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Kuemmerle-Deschner JB, Ramos E, Blank N, Roesler J, Felix SD, Jung T, et al. Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS). Arthritis Res Ther. 2011;13:R34.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Kuemmerle-Deschner JB, Hachulla E, Cartwright R, Hawkins PN, Tran TA, Bader-Meunier B, et al. Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Ann Rheum Dis. 2011;70:2095–102.

CAS  PubMed  Article  Google Scholar 

Koné-Paut I, Lachmann HJ, Kuemmerle-Deschner JB, Hachulla E, Leslie KS, Mouy R, et al. Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study. Arthritis Res Ther. 2011;13:R202.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Caorsi R, Lepore L, Zulian F, Alessio M, Stabile A, Insalaco A, et al. The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age. Arthritis Res Ther. 2013;15:R33.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Ter Haar N, Lachmann H, Özen S, Woo P, Uziel Y, Modesto C, et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis. 2013;72:678–85.

PubMed  Article  Google Scholar 

Russo RAG, Melo-Gomes S, Lachmann HJ, Wynne K, Rajput K, Eleftheriou D, et al. Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience. Rheumatology (Oxford). 2014;53:665–70.

CAS  Article  Google Scholar 

Brogan PA, Hofer M, Kuemmerle-Deschner JB, Koné-Paut I, Roesler J, Kallinich T, et al. Rapid and sustained long-term efficacy and safety of canakinumab in patients with cryopyrin-associated periodic syndrome ages five years and younger. Arthritis Rheumatol. 2019;71:1955–63.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Cuperus E, Koevoets R, van der Smagt JJ, Toonstra J, de Graaf M, Frenkel J, et al. Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin. JAAD Case Rep. 2018;4:192–5.

PubMed  PubMed Central  Article  Google Scholar 

Ulusoy E, Karaca NE, El-Shanti H, Kilicoglu E, Aksu G, Kutukculer N. Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report. J Med Case Rep. 2015;9:145.

PubMed  PubMed Central  Article  Google Scholar 

Tonduti D, Fazzi E, Badolato R, Orcesi S. Novel and emerging treatments for Aicardi-Goutières syndrome. Expert Rev Clin Immunol. 2020;16:189–98.

CAS  PubMed  Article