Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion

Shiow, Lawrence R.; Akana, Matthew; Cyster, Jason G.; Sorensen, Ricardo U.; Puck, Jennifer M.

doi:10.1016/j.clim.2008.11.002

Cited by 129 publications

(115 citation statements)

References 30 publications

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“…Genetic details of the Coro1A-deficient patient will be described elsewhere, but c.1077delC (maternal source) and c.248_249delCT (paternal source) mutations were identified in the patient initially via wholeexome sequencing and were subsequently confirmed using the Sanger method. The c.248_249delCT mutation has been previously reported (29).…”

Section: Methodsmentioning

confidence: 89%

“…All previously described Coro1A-deficient patients have seemingly unaffected NK cell numbers; however, NK cells have not been studied functionally before now (26,29,30). It is relevant that these patients have recurrent and severe viral infections, and one of these patients was hospitalized with near-fatal varicella infection (26).…”

Section: Discussionmentioning

confidence: 99%

“…+ combined immunodeficiency and susceptibility to severe viral infections, including life-threatening varicella infection and EBV-driven lymphoproliferation (26,29,30).…”

Section: Nkmentioning

confidence: 99%

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Lytic immune synapse function requires filamentous actin deconstruction by Coronin 1A

Mace

Orange

2014

Proc. Natl. Acad. Sci. U.S.A.

105

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Significance Natural killer (NK) cells are cytolytic effector cells of the innate immune system. They are critical for the control of viral infection and malignancy, and patients with impaired NK cell function have recurrent and often fatal viral infection and malignancy. NK cell cytotoxic function is exerted by secretion of specialized lytic granules. Here, we show that deconstruction of synaptic cortical filamentous (F)-actin by Coronin 1A (Coro1A) is required for NK cell cytotoxicity through the remodeling of F-actin to enable lytic granule secretion. We define this requirement for remodeling using superresolution nanoscopy and Coro1A-deficient NK cells. In addition, we use NK cells from a patient with a rare Coro1A mutation, thus illustrating a critical link between Coro1A function and human health.

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Section: Methodsmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

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Lytic immune synapse function requires filamentous actin deconstruction by Coronin 1A

Mace

Orange

2014

Proc. Natl. Acad. Sci. U.S.A.

105

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“…Intriguingly, it has been demonstrated that 16p11.2 is strongly associated with a group of neural developmental disorders, including autism spectrum disorder 9 [14,15], schizophrenia [18], attention-deficit hyperactivity disorder [29] and abnormal head size [30]. Deletion or duplication of one copy of the 16p11.2 interval is tightly associated with impaired brain function, indicating the importance of 16p11.2 gene domain [31,32].…”

Section: Discussionmentioning

confidence: 99%

16p11.2 is required for neuronal polarity

Li¹,

Feng²

2013

WJNS

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Since Autism Spectrum Disorder (ASD) is strongly associated with chromosomal abnormalities of 16p11.2, and Autism has been linked to neuronal polarity defect, our study aimed to explore the role of 16p11.2 genes in regulating neuronal polarity. We performed a neuronal polarity assay in a high throughput manner for candidate genes at 16p11.2. Our most interesting finding was that three 16p11.2 candidate genes, DOC2a, Tbx-6 and KIF 22, affected neuronal polarity. Our research, for the first time, indicates a novel association between 16p11.2 and neuronal polarity. Our results support the hypothesis that 16p11.2 is required for neuronal polarity. Our research provides new important insights into molecular mechanisms underlying the tight association between 16p11.2 and several neural developmental disorders, including autism, epilepsy, mental retardation and schizophrenia.

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“…The former clinical scenario has been described in a patient with severe combined immunodeficiency due to Coronin-1A (MIM 605000) mutation and a 16p11.2 deletion. 12 The rearranged 16p11.2 interval contains 27 annotated genes, some of which are potential candidates for the various phenotypes in patients with these copy number changes. The TBX6 (MIM 602427) gene encodes a transcription factor important in developmental processes and can have a role in the congenital spinal anomalies that we observed in our patients.…”

Section: Discussionmentioning

confidence: 99%

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

et al. 2010

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4 16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic features, and abnormal head size. In addition, congenital anomalies and abnormal brain findings were frequently observed in patients with these rearrangements. We identified and performed a detailed microarray, phenotypic, and radiological characterization of three new patients with 16p11.2 rearrangements: two deletion patients and one patient with the reciprocal duplication. All patients have a heterozygous loss (deletion) or gain (duplication) corresponding to chromosomal coordinates (chr16: 29 528 190-30 107 184) with a minimal size of 579 kb. The deletion patients had language delay and learning disabilities and one met criteria for pervasive developmental disorder not otherwise specified. The duplication patient received a diagnosis of autism and had academic deficits and behavioral problems. The patients with deletion had long cervicothoracic syringomyelia and the duplication patient had long thoracolumbar syringomyelia. The syringomyelia in one patient with deletion was associated with Chiari malformation. Our findings highlight the broad spectrum of clinical and neurological manifestations in patients with 16p11.2 rearrangements. Our observation suggests that genes (or a single gene) within the implicated interval have significant roles in the pathogenesis of syringomyelia. A more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in these patients.

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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion

Cited by 129 publications

References 30 publications

Lytic immune synapse function requires filamentous actin deconstruction by Coronin 1A

Lytic immune synapse function requires filamentous actin deconstruction by Coronin 1A

16p11.2 is required for neuronal polarity

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

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