Patricia Panikulam

Biallelic mutations in PI4KA alter lymphocyte migration under confinement and mitochondrial metabolism

Patricia Panikulam

Les mutations bialléliques de PI4KA modifient la migration des lymphocytes sous confinement et le métabolisme mitochondrial Les actinopathies liées au système immunitaire sont causées par des mutations de gènes contrôlant directement ou indirectement la dynamique de l'actine. Les altérations moléculaires et cellulaires …

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Les mutations bialléliques de PI4KA modifient la migration des lymphocytes sous confinement et le métabolisme mitochondrial

Patricia Panikulam

Les actinopathies liées au système immunitaire sont causées par des mutations de gènes contrôlant directement ou indirectement la dynamique de l'actine. Les altérations moléculaires et cellulaires observées chez ces patients se manifestent souvent par une dysrégulation immunitaire. La dynamique de l'actine filamentaire …

Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

Marta Benavides‐Nieto, Frédéric Adam, Emmanuel Martin, Charlotte Boussard et autres

The ubiquitously expressed small GTPase Ras-related protein 1B (RAP1B) acts as a molecular switch that regulates cell signaling, cytoskeletal remodeling, and cell trafficking and activates integrins in platelets and lymphocytes. The residue G12 in the P-loop is required for the RAP1B-GTPase conformational …

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Human inherited CCR2 deficiency underlies progressive polycystic lung disease

Anna‐Lena Neehus, Brenna Carey, Marija Landekic, Patricia Panikulam et autres

Publisher of over 50 scientific journals across the life, physical, earth, and health sciences, both independently and in partnership with scientific societies including Cell, Neuron, Immunity, Current Biology, AJHG, and the Trends Journals.

Immunogenicity of SARS-CoV-2 vaccines BBV152 (COVAXIN®) and ChAdOx1 nCoV-19 (COVISHIELD™) in seronegative and seropositive individuals in India: a multicentre, nonrandomised observational study

Mangaiarkarasi Asokan, Roshni Florina Joan, Sudhir Babji, Girish Dayma et autres

Background: There are limited global data on head-to-head comparisons of vaccine platforms assessing both humoral and cellular immune responses, stratified by pre-vaccination serostatus. The COVID-19 vaccination drive for the Indian population in the age group 18-45 years began in April 2021 when …

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Human inherited CCR2 deficiency underlies progressive polycystic lung disease

Anna‐Lena Neehus, Brenna Carey, Marija Landekic, Patricia Panikulam et autres

We describe a human lung disease caused by autosomal recessive, complete deficiency of the monocyte chemokine receptor C-C motif chemokine receptor 2 (CCR2). Nine children from five independent kindreds have pulmonary alveolar proteinosis (PAP), progressive polycystic lung disease, and recurrent infections, including …

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A novel pediatric polycystic lung disease caused by CCR2 deficiency

Anna‐Lena Neehus, Marija Landekic, Darawan Rinchai, Patricia Panikulam et autres

Objective: Report the clinical presentation, pathogenesis, natural history, and diagnosis of a novel pediatric lung disease. Methods: We studied 8 patients with cystic lung disease presenting in childhood. Routine history, physical, laboratory, immunologic, pulmonary function, radiographic, and whole exome sequence (WES) data …

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Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement

Tania Gajardo, Mathilde Bernard, Marie Lô, Elisa Turck et autres

BACKGROUND: The actin cytoskeleton has a crucial role in the maintenance of the immune homeostasis by controlling various cellular processes, including cell migration. Mutations in TTC7A have been described as the cause of a primary immunodeficiency associated to different degrees of gut …

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DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Charlotte Boussard, Laure Delage, Tania Gajardo, Alexandre Kauskot et autres

Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. This is highlighted by the DOCK2 and DOCK8 deficiencies leading to actinopathies and immune deficiencies. DOCK8 and DOCK11 activate CDC42, a Rho-guanosine triphosphate hydrolases involved in actin cytoskeleton dynamics, …

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Interim results from comparison of immune responses elicited by an inactivated and a vectored SARS-CoV-2 vaccine in seronegative and seropositive participants in India

Mangaiarkarasi Asokan, Roshni Florina Joan, Sudhir Babji, Girish Dayma et autres

Abstract Background There are limited global data on head-to-head comparisons of vaccine platforms assessing both humoral and cellular immune responses, stratified by pre-vaccination serostatus. The COVID-19 vaccination drive for the Indian population in the 18 to 45-year age-group began in April 2021 …

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The expanding impact of T-regs in the skin

Edries Yousaf Hajam, Patricia Panikulam, Chung-Ching Chu, Haarshaadri Jayaprakash et autres

As the interface between the body and the environment, the skin functions as the physical barrier against external pathogens and toxic agents. In addition, the skin is an immunologically active organ with a plethora of resident adaptive and innate immune cells, as …

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Strategies to target SARS-CoV-2 entry and infection using dual mechanisms of inhibition by acidification inhibitors

Chaitra Prabhakara, Rashmi Godbole, Parijat Sil, Shah-E-Jahan Gulzar et autres

Many viruses utilize the host endo-lysosomal network for infection. Tracing the endocytic itinerary of SARS-CoV-2 can provide insights into viral trafficking and aid in designing new therapeutic strategies. Here, we demonstrate that the receptor binding domain (RBD) of SARS-CoV-2 spike protein is …

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