Letter to the editorSuccessful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome
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Cited by (57)
Immunodeficiency Syndromes Seen During the Neonatal Period
2023, Principles of NeonatologyCombined Immunodeficiencies With Syndromic Features
2022, Encyclopedia of Infection and ImmunityClinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome
2020, Journal of Allergy and Clinical Immunology: In PracticeCitation Excerpt :Successful HSCT has been reported in several patients with DOCK8 mutations and is shown to cure nearly all clinical and laboratory manifestations by reconstituting the normal function of the immune system.166-168 Recently reported HSCT in cases with STAT3 and LRBA mutations has also been associated with promising outcomes.169,170 This is the most extensive review of previously published cases of patients with IPEX and IPEX-like syndromes that provided a comparison between 2 diseases and may help discriminate “true IPEX” from “IPEX like” syndrome.
Primary immune deficiencies associated with a Th2 diathesis
2020, Stiehm's Immune Deficiencies: Inborn Errors of ImmunityAn Update on Syndromes with a Hyper-IgE Phenotype
2019, Immunology and Allergy Clinics of North AmericaCitation Excerpt :Encouragingly, more recent reports of transplantation in this patient population indicate that HSCT may be an important therapeutic option in patients with severe disease manifestations. In some cases, improvement in immunologic and nonimmunologic features of the underlying disease has been reported.33 In 2017, Lyons and colleagues reported a family with an LOF mutation in ERBB2IP, which encodes for the protein ERBIN.
STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis–like disease
2018, Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Supported by the Greek Ministry of Health.
Disclosure of potential conflict of interest: The authors have declared that they have no conflict of interest.