{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T15:04:55Z","timestamp":1778684695199,"version":"3.51.4"},"reference-count":109,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,5,6]],"date-time":"2022-05-06T00:00:00Z","timestamp":1651795200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>In this article we revised the literature on Inborn Errors of Immunity (IEI) keeping our focus on those diseases presenting with intrauterine or perinatal clinical manifestations. We opted to describe our findings according to the IEI categories established by the International Union of Immunological Societies, predominantly addressing the immunological features of each condition or group of diseases. The main finding is that such precocious manifestations are largely concentrated in the group of primary immune regulatory disorders (PIRDs) and not in the group of classical immunodeficiencies. The IEI categories with higher number of immunological manifestations <jats:italic>in utero<\/jats:italic> or in perinatal period are: (i) diseases of immune dysregulation (HLH, IPEX and other Tregopathies, autosomal recessive ALPS with complete lack of FAS protein expression) and (ii) autoinflammatory diseases (NOMID\/CINCA, DIRA and some interferonopathies, such as Aicardi-Gouti\u00e8res syndrome, AGS, and USP18 deficiency). Regarding the other IEI categories, some patients with Omenn syndrome (an atypical form of SCID), and a few X-linked CGD patients present with clinical manifestations at birth associated to immune dysregulation. The most frequent clinical features were hydrops fetalis, intrauterine growth retardation leading to fetal loss, stillbirths, and prematurity, as in HLH and IPEX. Additionally, pseudo-TORCH syndrome was observed in AGS and in USP18 deficiency. The main goal of our review was to contribute to increasing the medical awareness of IEI with intrauterine and perinatal onset, which has obvious implications for diagnosis, treatment, and genetic counseling.<\/jats:p>","DOI":"10.3389\/fped.2022.891343","type":"journal-article","created":{"date-parts":[[2022,5,6]],"date-time":"2022-05-06T08:18:57Z","timestamp":1651825137000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations"],"prefix":"10.3389","volume":"10","author":[{"given":"Magda","family":"Carneiro-Sampaio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana Almeida de","family":"Jesus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia Yumi","family":"Bando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Alberto","family":"Moreira-Filho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,5,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1097\/ACI.0000000000000689","article-title":"Primary immune regulatory disorders: a growing universe of immune dysregulation","volume":"20","author":"Chan","year":"2020","journal-title":"Curr Opin Allergy Clin Immunol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1097\/MOP.0000000000001075","article-title":"New primary immunodeficiencies 2021 context and future","volume":"33","author":"Demirdag","year":"2021","journal-title":"Curr Opin Pediatr."},{"key":"B3","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1007\/s10875-020-00758-x","article-title":"Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification","volume":"40","author":"Bousfiha","year":"2020","journal-title":"J Clin Immunol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1007\/s10875-021-00980-1","article-title":"The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee","volume":"41","author":"Tangye","year":"2021","journal-title":"J Clin Immunol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1007\/s10875-013-9865-6","article-title":"Primary immunodeficiency diseases in different age groups: a report on 1,008 cases from a single Brazilian reference center","volume":"33","author":"Carneiro-Sampaio","year":"2013","journal-title":"J Clin Immunol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"15061","DOI":"10.1038\/nrdp.2015.61","article-title":"Severe combined immunodeficiencies and related disorders","volume":"1","author":"Fischer","year":"2015","journal-title":"Nat Rev Dis Primers."},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-816768-7.00001-6","article-title":"Common presentations and diagnostic approaches","author":"Rezaie","year":"2020","journal-title":"Stiehm's Immune Deficiencies: Inborn Errors of Immunity. 2nd ed. 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