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Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

ABSTRACT: Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

PROVIDER: PRJNA482784 | ENA |

REPOSITORIES: ENA

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Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Project description:Life-threatening pulmonary influenza can be caused by inborn errors of type I and III IFN immunity. We report a 5 year-old child with severe pulmonary influenza at 2 years. She is homozygous for a loss-of-function IRF9 allele. Her cells activate gamma-activated factor (GAF) STAT1 homodimers but not interferon-stimulated gene factor 3 (ISGF3) trimers (STAT1/STAT2/IRF9) in response to IFN-α2b. The transcriptome induced by IFN-α2b in the patient’s cells is much narrower than that of control cells; however, induction of a subset of interferon-stimulated gene transcripts remains detectable. In vitro, the patient’s cells do not control three respiratory viruses, influenza A virus (IAV), parainfluenza virus, and respiratory syncytial virus. These phenotypes are rescued by wild-type IRF9, whereas silencing IRF9 expression in control cells increases viral replication. However, the child has controlled various common viruses in vivo, including respiratory viruses other than IAV. Our findings show that human IRF9- and ISGF3-dependent type I and III IFN responsive pathways are essential for controlling IAV.

2018-08-06 | GSE117637 | GEO

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

Project description: Not available

| S-EPMC6170168 | biostudies-literature

Inherited human c-REL deficiency disrupts adaptive immunity

Project description:Various inborn errors of the canonical NF-kB pathway underlie different forms of human immunodeficiency. However, no patients with autosomal recessive complete deficiencies of RelA, c-REL, or NF-kB1, the three core members of the canonical NF-kB pathway, have yet been identified. We report a child homozygous for a loss-of-expression mutation of REL, encoding c-REL, which is expressed principally in myeloid and lymphoid cells. The distribution of myeloid subsets is normal in this patient, but in vitro-derived monocytes and cDC1s, unlike cDC2s, have impaired IL-12 and IL-23 production. The patient has low frequencies of memory CD4+ T cells, Th1*, Th2, Tregs, and almost no memory B cells. The frequencies of the other lymphoid subsets are normal. The patient’s naïve and memory CD4+ T cells produce only small amounts of IL-2, and the addition of this interleukin rescues their proliferation in response to mitogens, but not to antigens, in vitro. However, we found that HLA-syngeneic control cDCs rescued the proliferation of these cells in response to recall antigens. The production of key effector cytokines, such as IL-4, IL-17A, and IFNg, by memory CD4+ T cells was also highly impaired ex vivo, as was the differentiation of naïve CD4+ T cells into Th1 and Th17 cells in vitro. Both the survival and proliferation of the patient’s naïve B cells were found to be compromised, preventing B-cell differentiation into immunoglobulin (Ig)-secreting plasmablasts in vitro. As a consequence of this pleiotropic effect, this child suffered from severe viral, mycobacterial, fungal, and parasitic infections, while IgG substitution treatment prevented pyogenic infections. The immunological and infectious phenotypes were of hematopoietic origin, as they were cured by hematopoietic stem cell transplantation. Inherited human c-REL deficiency impairs multiple core functions of DCs, T cells, and B cells, thereby disrupting adaptive immunity to multiple infections.

2021-08-31 | GSE167185 | GEO

Geosporobacter ferrireducens strain:IRF9

Project description:Geosporobacter ferrireducens strain:IRF9 Genome sequencing and assembly

| PRJNA340190 | ENA

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.

Project description: Not available

| S-EPMC7155173 | biostudies-literature

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Project description: Not available

| S-EPMC5502429 | biostudies-literature

Inherited human c-REL deficiency disrupts adaptive immunity

Project description:Inherited human c-REL deficiency disrupts adaptive immunity

| PRJNA703721 | ENA

Investigation of genome wide binding profile of IRF9 in I-IFN treated or sgScd2 Th1 cells

Project description:To investigate the role of IRF9 in the transcriptional regulation of interferon stimulated genes in sgScd2 Th1 cells, we assessed the genome-wide binding pattern of IRF9 by chromatin immunoprecipitation DNA-sequencing (ChIP-seq).

2022-08-03 | GSE200625 | GEO

Peripheral blood transcriptome profiles in Nepali child soldiers and civilians.

Project description:Analysis of transcript abundance estimates as a function of child soldier status, PTSD symptoms, and psychological resilience. Gene expression profiling was conducted on dried blood spot (DBS) samples collected from community dwelling adolescents and young adults in Nepal. Approximatley half of the sample were former child soldiers in the Nepal People's War and the other half were demographically similiar civilian non-combatants. In addition to basic demographic characteristics (age, sex, ethnic minority status, social caste status, education level), participants were also assessed on syptoms of post-traumatic stress (PTS, assessed by a culturally adapted version of The Child PTSD Symptom Scale; Kohrt BA, et al. (2011) Validation of cross-cultural child mental health and psychosocial research instruments: adapting the Depression Self-Rating Scale and Child PTSD Symptom Scale in Nepal. BMC Psychiatry 11(1):e127, with higher values indicating greater PTSD symptoms) and psychological resilience (assessed by a culturally adapted version of the Resilience Scale; Wagnild GM & Young HM (1993) Development and psychometric evaluation of the Resilience Scale. Journal of Nursing Measurement, with higher values indicating greater resilience). Dichotomous variables were coded 0=no/absent and 1=yes/present. Valid gene expression data are available for 254 samples.

2016-07-27 | E-GEOD-77164 | biostudies-arrayexpress

Peripheral blood transcriptome profiles in Nepali child soldiers and civilians.

Project description:Analysis of transcript abundance estimates as a function of child soldier status, PTSD symptoms, and psychological resilience.

2016-07-27 | GSE77164 | GEO

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