Neutrophilic Panniculitis in a child with <i><scp>MYSM</scp>1</i> deficiency

Nanda, Arti; Al‐Abboh, Hanan; Zahra, Akmal; Al‐Sabah, Humoud; Gupta, A.; Adekile, Adekunle

doi:10.1111/pde.13757

Cited by 7 publications

(3 citation statements)

References 6 publications

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“…Similar to our earlier observations and those reported from elsewhere (4-9, 12), Staphylococcus aureus abscess formation was a consistent feature in HIGE syndrome and DOCK8 deficiency patients. Besides the common staphylococcal skin infections, patients are also prone to get rare infections due to Gram-negative bacteria that may result in EG, which has been reported earlier in patients with X-linked agammaglobulinemia, chronic granulomatous disease, and hemophagocytic lymphohistiocytosis (13)(14)(15).…”

Section: Discussionmentioning

confidence: 85%

A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

Al‐Herz

Zainal

Nanda³

2021

Front. Immunol.

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Background and ObjectivesReports on skin manifestations in inborn errors of immunity (IEI) are based on retrospective analysis, small series, or isolated case reports. The present prospective study aimed to determine the spectrum of skin manifestations in children with IEI and their relevance to specific molecular defects.Materials and MethodsThe data were obtained from the Kuwait National Primary Immunodeficiency Disorders Registry during the period of 2004–2020.ResultsA total of 313 pediatric cases of IEI, 71% diagnosed at molecular level, were registered with a cumulative follow-up period of 29,734 months. Skin manifestations were seen in 40.3% of the patients, and they were among the presenting manifestations in 33%. Patients with skin manifestations were older at both onset and diagnosis ages of IEI symptoms, but this was statistically significant for the latter only. The diagnosis delay was significantly longer in patients with skin manifestations. There was a statistically significant association between having skin manifestations and IEI category, being more common in patients with complement deficiencies, combined immunodeficiencies, and diseases of immune dysregulation. There was no statistically significant association between having skin manifestations and both gender and survival. Skin infections were the most frequent manifestations followed by eczema and autoimmune associations. Among IEI with more than 10 cases, skin lesions were a consistent finding in dedicator of cytokinesis 8 (DOCK8) deficiency, hyper IgE syndrome, ataxia-telangiectasia, and recombination activation gene (RAG)1 deficiency.ConclusionsSkin manifestations are common in IEI patients, and they had significant diagnosis delay and referral to specialists. Improvement of awareness about IEI is needed among pediatricians and dermatologists.

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Section: Discussionmentioning

confidence: 85%

A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

Al‐Herz

Zainal

Nanda³

2021

Front. Immunol.

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“…Clinical features and mechanisms of MYSM1 deficiency in humans. MYSM1 deficiency is a rare congenital disorder, with only 6 patients described previously (16)(17)(18)51). Here, we characterize a 10-month old male patient with a potentially novel homozygous nonsense MYSM1 gene variant.…”

Section: Downregulation Of Rp Gene Expression In Mysm1 Deficiency Is mentioning

confidence: 93%

MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction

Belle¹,

Wang²,

Fiore³

et al. 2020

JCI Insight

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“…Skeletal and craniofacial abnormalities reported in two patients included limb shortening (rhizomelia) and midface hypoplasia [27]. Additionally, a sixth patient also carrying the p.E390* MYSM1 mutation in a homozygous state was reported to have neutrophilic panniculitis, as well as reduced B cell count, anemia, and a mild growth retardation [28]. Finally, a novel homozygous mutation p.R478* in MYSM1 was recently identified via whole-exome sequencing in a patient diagnosed with Diamond-Blackfan anemia, a disorder characterized by anemia and to a lesser extent other hematological and developmental abnormalities [29].…”

Section: Mysm1-deficiency In Human and Mouse: Mechanistic Insights Anmentioning

confidence: 97%

Deubiquitinase MYSM1 in the Hematopoietic System and beyond: A Current Review

Fiore

Liang

Lin

et al. 2020

IJMS

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MYSM1 has emerged as an important regulator of hematopoietic stem cell function, blood cell production, immune response, and other aspects of mammalian physiology. It is a metalloprotease family protein with deubiquitinase catalytic activity, as well as SANT and SWIRM domains. MYSM1 normally localizes to the nucleus, where it can interact with chromatin and regulate gene expression, through deubiquitination of histone H2A and non-catalytic contacts with other transcriptional regulators. A cytosolic form of MYSM1 protein was also recently described and demonstrated to regulate signal transduction pathways of innate immunity, by promoting the deubiquitination of TRAF3, TRAF6, and RIP2. In this work we review the current knowledge on the molecular mechanisms of action of MYSM1 protein in transcriptional regulation, signal transduction, and potentially other cellular processes. The functions of MYSM1 in different cell types and aspects of mammalian physiology are also reviewed, highlighting the key checkpoints in hematopoiesis, immunity, and beyond regulated by MYSM1. Importantly, mutations in MYSM1 in human were recently linked to a rare hereditary disorder characterized by leukopenia, anemia, and other hematopoietic and developmental abnormalities. Our growing knowledge of MYSM1 functions and mechanisms of actions sheds important insights into its role in mammalian physiology and the etiology of the MYSM1-deficiency disorder in human.

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Neutrophilic Panniculitis in a child with MYSM1 deficiency

Cited by 7 publications

References 6 publications

A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction

Deubiquitinase MYSM1 in the Hematopoietic System and beyond: A Current Review

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