A novel mutation in FOXN1 resulting in SCID: A case report and literature review

Chou, Janet; Massaad, Michel J.; Wakim, Rima Hanna; Bainter, Wayne; Dbaibo, Ghassan; Geha, Raif S.

doi:10.1016/j.clim.2014.08.005

Cited by 34 publications

(58 citation statements)

References 10 publications

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“…T cells had a poor or absent proliferative response to mitogens and exhibited an oligoclonal TCR repertoire [2][3][4]. NK and B cells, although normal in number, were also functionally impaired with abnormal specific antibody production [2][3][4][5].…”

Section: Focus On Immunodeficiency: Foxn1 In Tecs and T Cell Developmentmentioning

confidence: 99%

“…+ recent thymic emigrants [4], and naïve CD4 + CD45RA + T cells, the latter turning in favor of a CD45RO + memory phenotype [3,4,22]. The identification of the nude/SCID phenotype greatly contributed to unravel important issues of thymic and T cell development.…”

Section: Focus On Immunodeficiency: Foxn1 In Tecs and T Cell Developmentmentioning

confidence: 99%

“…All nude SCID patients reported so far showed decreased T cell counts [2][3][4][5], with a predominant reduction of CD4 + T cells [2,3] and an increase of double-negative lymphocytes in the peripheral blood [3,4]. T cells had a poor or absent proliferative response to mitogens and exhibited an oligoclonal TCR repertoire [2][3][4].…”

Section: Focus On Immunodeficiency: Foxn1 In Tecs and T Cell Developmentmentioning

confidence: 99%

“…Up to date, only three mutations of the FOXN1 gene have been reported in humans: the R255X, the S188fs, and the R320W [2][3][4][5]. These mutations are located in different domains of the molecule, and all resulted in a loss of function of the protein (Fig.…”

Section: Geneticsmentioning

confidence: 99%

“…The nude SCID phenotype has been identified in human for the first time in 1996 in two female patients who presented with thymus aplasia and ectodermal abnormalities [2], approximately 30 years later than the initial description of the murine counterpart. Thereafter, several nude SCID patients from all over the world have been described in the literature [3][4][5]. The immunological phenotype is T −/low B + NK + , with a profound functional T cell impairment, leading to severe and life-threatening infections in the first months of life.…”

Section: Introductionmentioning

confidence: 99%

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FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

et al. 2017

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Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published. FOXN1 has emerged as fundamental for thymus development, function, and homeostasis, representing the master regulator of thymic epithelial and T cell development. In the skin, it also plays a pivotal role in keratinocytes and hair follicle cell differentiation, although the underlying molecular mechanisms still remain to be fully elucidated. The nude severe combined immunodeficiency phenotype is indeed characterized by the clinical hallmarks of athymia with severe T cell immunodeficiency, congenital alopecia, and nail dystrophy. In this review, we summarize recent discoveries in the field and give interesting perspective about new and promising therapeutic approaches for disorders of immune system with athymia.

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Section: Focus On Immunodeficiency: Foxn1 In Tecs and T Cell Developmentmentioning

confidence: 99%

Section: Focus On Immunodeficiency: Foxn1 In Tecs and T Cell Developmentmentioning

confidence: 99%

Section: Focus On Immunodeficiency: Foxn1 In Tecs and T Cell Developmentmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

et al. 2017

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Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity

2021

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Hematopoietic stem cells (HSCs) are the progenitor cells that give rise to the diverse repertoire of all immune cells. As they differentiate, HSCs yield a series of cell states that undergo gradual commitment to become mature blood cells. Studies of hematopoiesis in murine models have provided critical insights about the lineage relationships among stem cells, progenitors, and mature cells, and these have guided investigations of the molecular basis for these distinct developmental stages. Primary immune deficiencies are caused by inborn errors of immunity that result in immune dysfunction and subsequent susceptibility to severe and recurrent infection(s). Over the last decade there has been a dramatic increase in the number and depth of the molecular, cellular, and clinical characterization of such genetically defined causes of immune dysfunction. Patients harboring inborn errors of immunity thus represent a unique resource to improve our understanding of the multilayered and complex mechanisms underlying lymphocyte development in humans. These breakthrough discoveries not only enable significant advances in the diagnosis of such rare and complex conditions but also provide substantial improvement in the development of personalized treatments. Here, we will discuss the clinical, cellular, and molecular phenotypes, and treatments of selected inborn errors of immunity that impede, either intrinsically or extrinsically, the development of B-or T-cells at different stages.

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Pulmonary Manifestations of Combined T- and B-Cell Immunodeficiencies

Gennery

2019

Pulmonary Manifestations of Primary Immunodeficiency Diseases

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A novel mutation in FOXN1 resulting in SCID: A case report and literature review

Cited by 34 publications

References 10 publications

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity

Pulmonary Manifestations of Combined T- and B-Cell Immunodeficiencies

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