First reported case of Omenn syndrome in a patient with reticular dysgenesis

Henderson, Lauren A.; Frugoni, Francesco; Hopkins, Gregory; Al‐Herz, Waleed; Weinacht, Katja G.; Comeau, Anne Marie; Bonilla, Francisco A.; Notarangelo, Luigi D.

doi:10.1016/j.jaci.2012.07.045

Cited by 33 publications

(42 citation statements)

References 11 publications

(9 reference statements)

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“…In this specific transgenic line, HSPCs and thrombocytes are marked by GFP expression (Lin et al, 2005;Bertrand et al, 2008;Kissa et al, 2008;Renaud et al, 2011). At 4.5 dpf, control embryos displayed GFP + cells (HSPCs and 2011; Henderson et al, 2013). To test this hypothesis, we assayed for cell death using acridine orange staining and TUNEL assay.…”

Section: Ak2 Deficiency Affects Zebrafish Hspc Developmentmentioning

confidence: 99%

“…To study the role of AK2 in hematopoietic development, we set out to generate a zebrafish model of AK2 deficiency. Because RD patients present with a variety of different mutations (including large intragenic deletions, single nucleotide substitution, and frameshift mutations; LagreslePeyrou et al, 2009LagreslePeyrou et al, , 2011Pannicke et al, 2009;Al-Zahrani et al, 2013;Henderson et al, 2013), we decided to generate various ak2 zebrafish mutants. Using zinc-finger nuclease (ZFN) technology, we introduced frameshift mutations in the first exon of the ak2 gene (a 2-bp deletion and a 4-bp insertion, indicated as ak2 del2 and ak2 ins4 , respectively; Fig.…”

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confidence: 99%

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Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Rissone¹,

Weinacht²,

Marca³

et al. 2015

J Cell Biol

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Section: Ak2 Deficiency Affects Zebrafish Hspc Developmentmentioning

confidence: 99%

mentioning

confidence: 99%

Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Rissone¹,

Weinacht²,

Marca³

et al. 2015

J Cell Biol

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“…The underlying defect is typically due to hypomorphic mutations in V(D)J recombination but numerous gene mutations leading to a variety of changes have been identified including changes in IL7Ralpha 8 , IL2Rgamma 9,10 , CHD7 11 , ADA 12 , RMRP 13 , and AK2 14 . These mutations lead to a downstream effect of abnormal T and B cell development which can cause an activated autoreactive T cell phenotype manifested as T cells infiltrating organs, including the skin, and the formation of autoantibodies.…”

Section: Specific Syndromic Diseases Giving Rise To Atopic Dermatitismentioning

confidence: 99%

Atopic Dermatitis and Allergic Urticaria

Gaudinski

Milner

2017

Immunology and Allergy Clinics of North America

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“…The list of gene defects that might present with characteristic of Omenn syndrome is growing. Henderson and collaborators 37 reported an infant who had severe desquamative eczema and was shown to have neurosensory deafness, absolute neutropenia, and lymphopenia with presence of T cells, which were found to be oligoclonal. He was the brother of a girl previously diagnosed with reticular dysgenesis, and had a homozygous mutation in adenylate kinase 2 (AK2 ) gene.…”

Section: Primary Immunodeficiencies: New Phenotypes For Known Gene Dementioning

confidence: 99%

Advances in basic and clinical immunology in 2013

Chinen

Notarangelo

Shearer

2014

Journal of Allergy and Clinical Immunology

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A significant number of contributions to our understanding of primary immunodeficiencies in pathogenesis, diagnosis and treatment were published in the Journal in 2013. For example, deficiency of mast cell degranulation due to STAT3 deficiency was demonstrated to contribute to the difference on frequency of severe allergic reactions in AD-HIES patients, compared to atopic individuals with similar high IgE serum levels. High levels of non-glycosylated IgA were found in WAS patients and these abnormal antibodies might contribute to nephropathy in WAS. New described genes causing immunodeficiency included caspase recruitment domain 11 (CARD11), mucosa-associated lymphoid tissue 1 (MALT1) for combined immunodeficiencies, and tetratricopeptide repeat domain 7A (TTC7A) for mutations associated to multiple atresia with combined immunodeficiency. Other observations expand the spectrum of clinical presentation of specific genes. (e.g., adult onset idiopathic T-cell lymphopenia and early onset autoimmunity might be due to hypomorphic mutations of the RAG genes). Newborn screening in California established incidence of SCID at 1/66,250 live births. The use of HSCT for primary immunodeficiencies was reviewed, with recommendations to give priority to research oriented to establish best regimens to improve safety and efficacy of bone marrow transplantation. These represent only a fraction of significant research done in primary immunodeficiencies that has accelerated the quality of care of these patients. Genetic analysis of patients has demonstrated multiple phenotypic expressions of immune deficiency in patients with nearly identical genotypes, suggesting that additional genetic factors, possibly gene dosage, or environmental factors are responsible for this diversity.

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First reported case of Omenn syndrome in a patient with reticular dysgenesis

Cited by 33 publications

References 11 publications

Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Atopic Dermatitis and Allergic Urticaria

Advances in basic and clinical immunology in 2013

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