Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations

January 2021 in “ Journal of Clinical Immunology ”

Giuliana Giardino, Svetlana Sharapova, Peter Čižnár, Fatima Dhalla, Luca Maragliano, Akella Radha Rama Devi, Candan İslamoğlu, Aydan İkincioğulları, Şule Haskoloğlu, Figen Doğu, Rima Hanna‐Wakim, Ghassan Dbaibo, Janet Chou, Emilia Cirillo, Carla Borzacchiello, Alexandra Y. Kreins, Austen Worth, Ioanna A. Rota, José Gonçalo Marques, Müge Sayitoğlu, Sinem Fırtına, Moaffaq Mahdi, Raif S. Geha, Bénédicte Neven, Ana E. Sousa, Fabio Benfenati, Georg A. Holländer, E. Graham Davies, Claudio Pignata

FOXN1 mutations congenital athymia alopecia nail dystrophy Omenn syndrome SCID-like phenotype hair loss severe combined immunodeficiency

Studysummary This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.

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Research cited in this study

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Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

53 citations , August 2019 in “American journal of human genetics”

This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.

research Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells

17 citations , June 2019 in “The journal of immunology/The Journal of immunology”

This study identified a regulatory element necessary for Foxn1 expression specifically in mouse thymic epithelial cells, crucial for thymus development but not affecting hair follicles.

research Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency

3 citations , May 2019 in “BMJ case reports”

This report describes a rare case of severe combined immunodeficiency caused by a FOXN1 gene variant, complicated by Epstein-Barr virus infection and high-grade B-cell lymphoma, leading to the infant's death despite treatment efforts.

research FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches

33 citations , September 2017 in “Journal of clinical immunology”

This review summarizes recent findings on FOXN1's essential role in thymus and skin biology and discusses emerging therapeutic approaches for immune disorders with athymia, but reports no new clinical results.

research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis

17 citations , June 2017 in “Gene”

This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.

research FOXN1 Deficient Nude Severe Combined Immunodeficiency

32 citations , January 2017 in “Orphanet journal of rare diseases”

This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.

Human FOXN1 Deficiency Is Associated with Alpha Beta Double-Negative and FoxP3 Positive T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation

research Human FOXN1 Deficiency Is Associated with Alpha Beta Double-Negative and FoxP3 Positive T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation

32 citations , May 2012 in “PloS one”

This study found that despite the persistence of aberrant double-negative T-cells, functional immune-competence was maintained after thymic transplantation in a patient with a rare FOXN1 mutation.

research First Use of Thymus Transplantation Therapy for FOXN1 Deficiency (Nude/SCID): A Report of 2 Cases

103 citations , January 2011 in “Blood”

This study found that thymus transplantation in infants with FOXN1 deficiency led to T-cell reconstitution and functional immunity, resolving serious infections and cytopenias.