{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T10:35:45Z","timestamp":1785839745784,"version":"3.56.0"},"reference-count":43,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0593_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Inborn errors of immunity (IEI) are a diverse group of genetically inherited disorders. We aimed to summarize and discuss endocrinopathies in children with\u00a0IEI.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0593_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This study included 84 IEI patients evaluated between September 2019 and September\u00a02023.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0593_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We found that 15.6\u202f% of the 32 patients with 22q11.2 deletion syndrome had permanent hypoparathyroidism. Hypergonadotropic hypogonadism was identified in one of four female patients with ataxia-telangiectasia (AT) and in all four females with severe congenital neutropenia (SCN) due to <jats:italic>HAX1<\/jats:italic> deficiency. Additionally, hypergonadotropic hypogonadism was observed in one of nine males with common variable immunodeficiency (CVID). Among the CVID patients, one presented with autoimmune thyroiditis (AIT), type 1 diabetes mellitus (T1DM), hypoparathyroidism, and primary adrenal insufficiency. Of the 307 patients followed for selective IgA deficiency (sIgAD), 26 also received care in pediatric endocrinology. Among the sIgAD cases, 3.2\u202f% had AIT and 4.5\u202f% had T1DM. A patient with a STAT1 gain-of-function (GOF) variant was diagnosed with T1DM, AIT, and growth hormone deficiency, while a patient with a novel STAT3-GOF variant developed neonatal DM and interstitial lung disease. When the whole group was\u00a0evaluated, thyroid disease was the most common endocrinopathy affecting 30.9\u202f% of individuals, followed by DM, which was observed in 20.2\u202f% of\u00a0cases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0593_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We have determined that AIT and T1DM were\u00a0the most prevalent endocrine disorders in IEI patients. Pubertal development and gonadal functions should be monitored in the children with IEI. Early diagnosis and individualized treatment of endocrinopathies are crucial for a better quality of life and reduction of IEI-related complications.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0593","type":"journal-article","created":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T05:58:42Z","timestamp":1745474322000},"page":"735-742","source":"Crossref","is-referenced-by-count":1,"title":["Endocrinopathies in children with inborn errors of immunity: a single-center experience"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7888-7295","authenticated-orcid":false,"given":"Gonul","family":"Buyukyilmaz","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , 639944 Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1606-4781","authenticated-orcid":false,"given":"Keziban","family":"Toksoy Adiguzel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , 639944 Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"},{"name":"Department of Pediatric Endocrinology , Dr. Burhan Nalbanto\u011flu State Hospital , Nicosia , Northern Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0850-0360","authenticated-orcid":false,"given":"P\u0131nar","family":"Kocaay","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , 639944 Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4289-9128","authenticated-orcid":false,"given":"Mehmet","family":"Boyraz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Ankara Yildirim Beyazit University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0731-5799","authenticated-orcid":false,"given":"Ayse","family":"Metin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Allergy and Immunology , University of Health Sciences, Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,4,25]]},"reference":[{"key":"2025071812031894346_j_jpem-2024-0593_ref_001","doi-asserted-by":"crossref","unstructured":"Tangye, SG, Al-Herz, W, Bousfiha, A, Cunningham-Rundles, C, Franco, JL, Holland, SM, et al.. Human inborn errors of immunity: 2022 update on the classification from the international union of immunological Societies expert committee. J\u00a0Clin Immunol 2022;42:1473\u2013507. https:\/\/doi.org\/10.1007\/s10875-022-01289-3.","DOI":"10.1007\/s10875-022-01289-3"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_002","doi-asserted-by":"crossref","unstructured":"Goyal, R, Bulua, AC, Nikolov, NP, Schwartzberg, PL, Siegel, RM. Rheumatologic and autoimmune manifestations of primary immunodeficiency disorders. Curr Opin Rheumatol 2009;21:78\u201384. https:\/\/doi.org\/10.1097\/bor.0b013e32831cb939.","DOI":"10.1097\/BOR.0b013e32831cb939"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_003","doi-asserted-by":"crossref","unstructured":"Farmer, JR, Ong, MS, Barmettler, S, Yonker, LM, Fuleihan, R, Sullivan, KE, et al.. Common variable immunodeficiency non-infectious disease endotypes redefined using unbiased network clustering in large electronic datasets. Front Immunol 2017;8:1740. https:\/\/doi.org\/10.3389\/fimmu.2017.01740.","DOI":"10.3389\/fimmu.2017.01740"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_004","doi-asserted-by":"crossref","unstructured":"Brandt, D, Gershwin, ME. Common variable immune deficiency and autoimmunity. Autoimmun Rev 2006;5:465\u201370. https:\/\/doi.org\/10.1016\/j.autrev.2006.03.010.","DOI":"10.1016\/j.autrev.2006.03.010"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_005","doi-asserted-by":"crossref","unstructured":"Takasawa, K, Kanegane, H, Kashimada, K, Morio, T. Endocrinopathies in inborn errors of immunity. Front Immunol 2021;12:786241. https:\/\/doi.org\/10.3389\/fimmu.2021.786241.","DOI":"10.3389\/fimmu.2021.786241"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_006","doi-asserted-by":"crossref","unstructured":"Walter, JE, Ayala, IA, Milojevic, D. Autoimmunity as a continuum in primary immunodeficiency. Curr Opin Pediatr 2019;31:851\u201362. https:\/\/doi.org\/10.1097\/mop.0000000000000833.","DOI":"10.1097\/MOP.0000000000000833"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_007","doi-asserted-by":"crossref","unstructured":"Chaimowitz, NS, Ebenezer, SJ, Hanson, IC, Anderson, M, Forbes, LR. STAT1 gain of function, type 1 diabetes, and reversal with JAK inhibition. N\u00a0Engl J Med 2020;383:1494\u20136. https:\/\/doi.org\/10.1056\/nejmc2022226.","DOI":"10.1056\/NEJMc2022226"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_008","doi-asserted-by":"crossref","unstructured":"Carlsson, G, Kristr\u00f6m, B, Nordenskj\u00f6ld, M, Henter, JI, Fadeel, B. Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease? Acta Paediatr 2013;102:78\u201382. https:\/\/doi.org\/10.1111\/apa.12050.","DOI":"10.1111\/apa.12050"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_009","doi-asserted-by":"crossref","unstructured":"Buonocore, F, K\u00fchnen, P, Suntharalingham, JP, Del Valle, I, Digweed, M, Stachelscheid, H, et al.. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J\u00a0Clin Invest 2017;127:1700\u201313. https:\/\/doi.org\/10.1172\/JCI91913.","DOI":"10.1172\/JCI91913"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_010","doi-asserted-by":"crossref","unstructured":"Amirifar, P, Ranjouri, MR, Yazdani, R, Abolhassani, H, Aghamohammadi, A. Ataxia-telangiectasia: a review of clinical features and molecular pathology. Pediatr Allergy Immunol 2019;30:277\u201388. https:\/\/doi.org\/10.1111\/pai.13020.","DOI":"10.1111\/pai.13020"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_011","doi-asserted-by":"crossref","unstructured":"Sanal, O, Tezcan, I. Thirty years of primary immunodeficiencies in Turkey. Ann N. Y Acad Sci 2011;1238:15\u201323. https:\/\/doi.org\/10.1111\/j.1749-6632.2011.06242.x.","DOI":"10.1111\/j.1749-6632.2011.06242.x"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_012","doi-asserted-by":"crossref","unstructured":"Nozaki, T, Takada, H, Ishimura, M, Ihara, K, Imai, K, Morio, T, et al.. Endocrine complications in primary immunodeficiency diseases in Japan. Clin Endocrinol (Oxf) 2012;77:628\u201334. https:\/\/doi.org\/10.1111\/j.1365-2265.2012.04390.x.","DOI":"10.1111\/j.1365-2265.2012.04390.x"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_013","doi-asserted-by":"crossref","unstructured":"Demir, K, \u00d6zen, S, Konak\u00e7\u0131, E, Ayd\u0131n, M, Darendeliler, F. A comprehensive online calculator for pediatric endocrinologists: \u00c7EDD \u00c7\u00f6z\u00fcm\/TPEDS metrics. J\u00a0Clin Res Pediatr Endocrinol. 2017;9:182\u20134. https:\/\/doi.org\/10.4274\/jcrpe.4526.","DOI":"10.4274\/jcrpe.4526"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_014","doi-asserted-by":"crossref","unstructured":"Weinzimer, SA. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med 2001;3:19\u201322. https:\/\/doi.org\/10.1097\/00125817-200101000-00005.","DOI":"10.1097\/00125817-200101000-00005"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_015","doi-asserted-by":"crossref","unstructured":"McDonald-McGinn, DM, Sullivan, KE, Marino, B, Philip, N, Swillen, A, Vorstman, JA, et al.. 22q11.2 deletion syndrome. Nat Rev Dis Prim 2015;1:15071. https:\/\/doi.org\/10.1038\/nrdp.2015.71.","DOI":"10.1038\/nrdp.2015.71"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_016","doi-asserted-by":"crossref","unstructured":"Kawame, H, Adachi, M, Tachibana, K, Kurosawa, K, Ito, F, Gleason, MM, et al.. Graves\u2019 disease in patients with 22q11.2 deletion. J\u00a0Pediatr 2001;139:892\u20135. https:\/\/doi.org\/10.1067\/mpd.2001.119448.","DOI":"10.1067\/mpd.2001.119448"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_017","doi-asserted-by":"crossref","unstructured":"Lasprilla-Tovar, J, Zuluaga, NA, Forero, C, Correa-Jim\u00e9nez, O, Sierra, JM. Endocrine abnormalities and growth characterization in Colombian pediatric patients with 22q11 deletion syndrome. J\u00a0Clin Res Pediatr Endocrinol 2023;15:16\u201324. https:\/\/doi.org\/10.4274\/jcrpe.galenos.2022.2022-4-12.","DOI":"10.4274\/jcrpe.galenos.2022.2022-4-12"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_018","doi-asserted-by":"crossref","unstructured":"Chun, HH, Gatti, RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004;3:1187\u201396. https:\/\/doi.org\/10.1016\/j.dnarep.2004.04.010.","DOI":"10.1016\/j.dnarep.2004.04.010"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_019","doi-asserted-by":"crossref","unstructured":"Nissenkorn, A, Levy-Shraga, Y, Banet-Levi, Y, Lahad, A, Sarouk, I, Modan-Moses, D. Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. Pediatr Res 2016;79:889\u201394. https:\/\/doi.org\/10.1038\/pr.2016.19.","DOI":"10.1038\/pr.2016.19"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_020","doi-asserted-by":"crossref","unstructured":"Petley, E, Yule, A, Alexander, S, Ojha, S, Whitehouse, WP. The natural history of ataxia-telangiectasia (A-T): a systematic review. PLoS One 2022;17:e0264177. https:\/\/doi.org\/10.1371\/journal.pone.0264177.","DOI":"10.1371\/journal.pone.0264177"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_021","unstructured":"Boder, E. Ataxia-telangiectasia: some historic, clinical and pathologic observations. Birth Defects Orig Artic Ser 1975;11:255\u201370."},{"key":"2025071812031894346_j_jpem-2024-0593_ref_022","doi-asserted-by":"crossref","unstructured":"Barlow, C, Hirotsune, S, Paylor, R, Liyanage, M, Eckhaus, M, Collins, F, et al.. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 1996;86:159\u201371. https:\/\/doi.org\/10.1016\/s0092-8674(00)80086-0.","DOI":"10.1016\/S0092-8674(00)80086-0"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_023","doi-asserted-by":"crossref","unstructured":"Tao, XY, Zuo, AZ, Wang, JQ, Tao, FB. Effect of primary ovarian insufficiency and early natural menopause on mortality: a meta-analysis. Climacteric 2016;19:27\u201336. https:\/\/doi.org\/10.3109\/13697137.2015.1094784.","DOI":"10.3109\/13697137.2015.1094784"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_024","doi-asserted-by":"crossref","unstructured":"Carlsson, G, Melin, M, Dahl, N, Ramme, KG, Nordenskj\u00f6ld, M, Palmblad, J, et al.. Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatr 2007;96:813\u20139. https:\/\/doi.org\/10.1111\/j.1651-2227.2007.00274.x.","DOI":"10.1111\/j.1651-2227.2007.00274.x"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_025","doi-asserted-by":"crossref","unstructured":"Klein, C, Grudzien, M, Appaswamy, G, Germeshausen, M, Sandrock, I, Sch\u00e4ffer, AA, et al.. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007;39:86\u201392. https:\/\/doi.org\/10.1038\/ng1940.","DOI":"10.1038\/ng1940"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_026","doi-asserted-by":"crossref","unstructured":"Choi, WJ, Banerjee, J, Falcone, T, Bena, J, Agarwal, A, Sharma, RK. Oxidative stress and tumor necrosis factor-alpha-induced alterations in metaphase II mouse oocyte spindle structure. Fertil Steril 2007;88:1220\u201331. https:\/\/doi.org\/10.1016\/j.fertnstert.2007.02.067.","DOI":"10.1016\/j.fertnstert.2007.02.067"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_027","doi-asserted-by":"crossref","unstructured":"Cekic, S, Saglam, H, Gorukmez, O, Yakut, T, Tarim, O, Kilic, SS. Delayed puberty and gonadal failure in patients with HAX1 mutation. J\u00a0Clin Immunol 2017;37:524\u20138. https:\/\/doi.org\/10.1007\/s10875-017-0412-8.","DOI":"10.1007\/s10875-017-0412-8"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_028","doi-asserted-by":"crossref","unstructured":"K\u0131z\u0131lay, D, Karap\u0131nar, DY, Karada\u015f, N, Karao\u011flan, M, Akbayram, S, G\u00f6k\u015fen, D, et al.. A little known but very common phenotype in patients with severe congenital neutropenia due to HAX1 deficiency: premature ovarian insufficiency. Pediatr Blood Cancer 2025:e31591. https:\/\/doi.org\/10.1002\/pbc.31591.","DOI":"10.22541\/au.172681934.43919964\/v1"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_029","doi-asserted-by":"crossref","unstructured":"Odnoletkova, I, Kindle, G, Quinti, I, Grimbacher, B, Knerr, V, Gathmann, B, et al.. The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data. Orphanet J Rare Dis 2018;13:201. https:\/\/doi.org\/10.1186\/s13023-018-0941-0.","DOI":"10.1186\/s13023-018-0941-0"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_030","doi-asserted-by":"crossref","unstructured":"Fernando, SL, Jang, HS, Li, J. The immune dysregulation of common variable immunodeficiency disorders. Immunol Lett 2021;230:21\u20136. https:\/\/doi.org\/10.1016\/j.imlet.2020.12.002.","DOI":"10.1016\/j.imlet.2020.12.002"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_031","doi-asserted-by":"crossref","unstructured":"Coopmans, EC, Chunharojrith, P, Neggers, S, van der Ent, MW, Swagemakers, SMA, Hollink, IH, et al.. Endocrine disorders are prominent clinical features in patients with primary antibody deficiencies. Front Immunol 2019;10:2079. https:\/\/doi.org\/10.3389\/fimmu.2019.02079.","DOI":"10.3389\/fimmu.2019.02079"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_032","doi-asserted-by":"crossref","unstructured":"Szczawi\u0144ska-Pop\u0142onyk, A, Ta Polska-J\u00f3\u017awiak, K, Schwartzmann, E, Pop\u0142onyk, N. Immune dysregulation in pediatric common variable immunodeficiency: implications for the diagnostic approach. Front Pediatr 2022;10:855200. https:\/\/doi.org\/10.3389\/fped.2022.855200.","DOI":"10.3389\/fped.2022.855200"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_033","doi-asserted-by":"crossref","unstructured":"Bahceci, M, Tuzcu, A, Pasa, S, Ayyildiz, O, Tuzcu, S. Polyglandular autoimmune syndrome type III accompanied by common variable immunodeficiency. Gynecol Endocrinol 2004;19:47\u201350. https:\/\/doi.org\/10.1080\/09513590410001725279.","DOI":"10.1080\/09513590410001725279"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_034","doi-asserted-by":"crossref","unstructured":"Yazdani, R, Azizi, G, Abolhassani, H, Aghamohammadi, A. Selective IgA deficiency: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management. Scand J Immunol 2017;85:3\u201312. https:\/\/doi.org\/10.1111\/sji.12499.","DOI":"10.1111\/sji.12499"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_035","doi-asserted-by":"crossref","unstructured":"Shkalim, V, Monselize, Y, Segal, N, Zan-Bar, I, Hoffer, V, Garty, BZ. Selective IgA deficiency in children in Israel. J\u00a0Clin Immunol 2010;30:761\u20135. https:\/\/doi.org\/10.1007\/s10875-010-9438-x.","DOI":"10.1007\/s10875-010-9438-x"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_036","doi-asserted-by":"crossref","unstructured":"Jacob, CM, Pastorino, AC, Fahl, K, Carneiro-Sampaio, M, Monteiro, RC. Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. J\u00a0Clin Immunol 2008;28:S56\u201361. https:\/\/doi.org\/10.1007\/s10875-007-9163-2.","DOI":"10.1007\/s10875-007-9163-2"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_037","doi-asserted-by":"crossref","unstructured":"Erko\u00e7o\u011flu, M, Metin, A, Kaya, A, \u00d6zcan, C, Akan, A, Civelek, E, et al.. Allergic and autoimmune disorders in families with selective IgA deficiency. Turk J Med Sci 2017;47:592\u20138. https:\/\/doi.org\/10.3906\/sag-1605-50.","DOI":"10.3906\/sag-1605-50"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_038","doi-asserted-by":"crossref","unstructured":"Dom\u00ednguez, O, Giner, MT, Alsina, L, Mart\u00edn, MA, Lozano, J, Plaza, AM. [Clinical phenotypes associated with selective IgA deficiency: a review of 330 cases and a proposed follow-up protocol]. Pediatr (Barc). 2012;76:261\u20137.","DOI":"10.1016\/j.anpedi.2011.11.006"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_039","doi-asserted-by":"crossref","unstructured":"Aghamohammadi, A, Cheraghi, T, Gharagozlou, M, Movahedi, M, Rezaei, N, Yeganeh, M, et al.. IgA deficiency: correlation between\u00a0clinical\u00a0and immunological phenotypes. J\u00a0Clin Immunol 2009;29:130\u20136. https:\/\/doi.org\/10.1007\/s10875-008-9229-9.","DOI":"10.1007\/s10875-008-9229-9"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_040","doi-asserted-by":"crossref","unstructured":"Ludvigsson, JF, Neovius, M, Hammarstr\u00f6m, L. Association between IgA deficiency & other autoimmune conditions: a population-based matched cohort study. J\u00a0Clin Immunol 2014;34:444\u201351. https:\/\/doi.org\/10.1007\/s10875-014-0009-4.","DOI":"10.1007\/s10875-014-0009-4"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_041","doi-asserted-by":"crossref","unstructured":"Vogel, TP, Milner, JD, Cooper, MA. The Ying and Yang of STAT3 in human disease. J\u00a0Clin Immunol 2015;35:615\u201323. https:\/\/doi.org\/10.1007\/s10875-015-0187-8.","DOI":"10.1007\/s10875-015-0187-8"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_042","doi-asserted-by":"crossref","unstructured":"Sediva, H, Dusatkova, P, Kanderova, V, Obermannova, B, Kayserova, J, Sramkova, L, et al.. Short stature in a boy with multiple early-onset autoimmune conditions due to a STAT3 activating mutation: could intracellular growth hormone signalling Be compromised? Horm Res Paediatr 2017;88:160\u20136. https:\/\/doi.org\/10.1159\/000456544.","DOI":"10.1159\/000456544"},{"key":"2025071812031894346_j_jpem-2024-0593_ref_043","doi-asserted-by":"crossref","unstructured":"Dalg\u0131\u00e7, CT, Sin, AZ, Ardeniz, F\u00d6. Retrospective analysis of autoimmune diseases and immunologic characteristics of the adult primary immune deficiency cohort: 17\u00a0years experience of the tertiary referral immunology center in Turkey. Asthma Allergy Immunol 2021;19:12\u201323. https:\/\/doi.org\/10.21911\/aai.545.","DOI":"10.21911\/aai.545"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2024-0593\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2024-0593\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T12:03:30Z","timestamp":1752840210000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2024-0593\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,25]]},"references-count":43,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2025,3,21]]},"published-print":{"date-parts":[[2025,7,28]]}},"alternative-id":["10.1515\/jpem-2024-0593"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2024-0593","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,25]]}}}