Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses.

Autor:	Guirguis, Justina, Iosim, Sonia, Jones, Derek, Likhite, Maryel, Chen, Fei, Kesserwan, Chimene, Gindin, Tatyana, Kahn, Philip J., Beck, David, Oza, Vikash S., Hillier, Kirsty
Předmět:	SKIN diseases ZINC-finger proteins AUTOIMMUNE diseases OPPORTUNISTIC infections DISEASE relapse GENETIC mutation
Zdroj:	Pediatric Dermatology; Jul2024, Vol. 41 Issue 4, p707-713, 7p
Abstrakt:	Monogenic diseases of immune dysregulation should be considered in the evaluation of children presenting with recurrent neutrophilic dermatoses in association with systemic signs of inflammation, autoimmune disease, hematologic abnormalities, and opportunistic or recurrent infections. We report the case of a 2‐year‐old boy presenting with a neutrophilic dermatosis, found to have a novel likely pathogenic germline variant of the IKAROS Family Zinc Finger 1 (IKZF1) gene; the mutation likely results in a loss of function dimerization defective protein based on reports and studies of similar variants. IKZF1 variants could potentially lead to aberrant neutrophil chemotaxis and development of neutrophilic dermatoses. Long‐term surveillance is required to monitor the development of hematologic malignancy, autoimmunity, immunodeficiency, and infection in patients with pathogenic IKZF1 germline variants. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Plný text