A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

Oleaga-Quintas, Carmen; Deswarte, Caroline; Moncada-Vélez, Marcela; Metìn, Ayşe; Rao, Indumathi Krishna; Kanık-Yüksek, Saliha; Guérin, Antoine; Gülhan, Belgi̇n; Murthy, Savita; Özkaya-Parlakay, Aslınur; Abel, Laurent; Martı́nez-Barricarte, Rubén; Diego, Rebeca Pérez de; Boisson–Dupuis, Stéphanie; Kong, Xiao‐Fei; Casanova, Jean‐Laurent; Bustamante, Jacinta

doi:10.1093/hmg/ddy275

Cited by 14 publications

(24 citation statements)

References 76 publications

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“…WES identified homozygous mutations in the first or second codon of IFNGR2 (c.1A>G and c.4delC) . In an overexpression system, the two mutant proteins were produced, albeit in small amounts, and their function was impaired, as demonstrated by the cellular response to IFN‐γ . Similar results were obtained for patients’ SV40‐fibroblasts, EBV‐transformed B lymphocytes (EBV‐B cells), primary CD4 + T cells, and monocyte‐derived macrophages (homozygous for c.1A>G) .…”

Section: A New Allelic Form Of Partial Ar Ifn‐γr2 Deficiencymentioning

confidence: 57%

“…A new form of partial AR IFN‐γR2 deficiency was recently described in three patients from two kindreds from Turkey and India . The three patients developed BCG disease following vaccination.…”

Section: A New Allelic Form Of Partial Ar Ifn‐γr2 Deficiencymentioning

confidence: 99%

“…The three patients developed BCG disease following vaccination. One of the patients died from M. chelonei infection at the age of 5 years . WES identified homozygous mutations in the first or second codon of IFNGR2 (c.1A>G and c.4delC) .…”

Section: A New Allelic Form Of Partial Ar Ifn‐γr2 Deficiencymentioning

confidence: 99%

“…One of the patients died from M. chelonei infection at the age of 5 years . WES identified homozygous mutations in the first or second codon of IFNGR2 (c.1A>G and c.4delC) . In an overexpression system, the two mutant proteins were produced, albeit in small amounts, and their function was impaired, as demonstrated by the cellular response to IFN‐γ .…”

Section: A New Allelic Form Of Partial Ar Ifn‐γr2 Deficiencymentioning

confidence: 99%

“…The causal genetic lesions include single nucleotide variations, small deletions, duplications, insertions, or indels, and copy number variations (CNV; large deletions or duplications) . Since the last comprehensive review on MSMD in 2014, three new genetic disorders have been reported, caused by mutations of TYK2 and SPPL2A, (two novel genetic etiologies) and IFNGR2 (a novel allelic form). Moreover, new mutations associated with the other 18 disorders have also been reported .…”

Section: Introductionmentioning

confidence: 99%

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Mendelian susceptibility to mycobacterial disease: 2014–2018 update

et al. 2018

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Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-c immunity. Since 1996, disease-causing mutations have been found in 11 genes, which, through allelic heterogeneity, underlie 21 different genetic disorders. We briefly review here progress in the study of molecular, cellular and clinical aspects of MSMD since the last comprehensive review published in 2014. Highlights include the discoveries of (1) a new genetic etiology, autosomal recessive signal peptide peptidase-like 2 A deficiency, (2) TYK2-deficient patients with a clinical phenotype of MSMD, (3) an allelic form of partial recessive IFN-cR2 deficiency, and (4) two forms of syndromic MSMD: RORc/RORcT and JAK1 deficiencies. These recent findings illustrate how genetic and immunological studies of MSMD can shed a unique light onto the mechanisms of protective immunity to mycobacteria in humans.

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Section: A New Allelic Form Of Partial Ar Ifn‐γr2 Deficiencymentioning

confidence: 57%

Section: A New Allelic Form Of Partial Ar Ifn‐γr2 Deficiencymentioning

confidence: 99%

Section: A New Allelic Form Of Partial Ar Ifn‐γr2 Deficiencymentioning

confidence: 99%

Section: A New Allelic Form Of Partial Ar Ifn‐γr2 Deficiencymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Mendelian susceptibility to mycobacterial disease: 2014–2018 update

et al. 2018

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Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

et al. 2019

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Live-attenuated vaccines (LAVs) can protect humans against 12 viral and three bacterial diseases. By definition, any clinical infection caused by a LAV that is sufficiently severe to require medical intervention attests to an inherited or acquired immunodeficiency that must be diagnosed or identified. Self-healing infections can also result from milder forms of immunodeficiency. We review here the inherited forms of immunodeficiency underlying severe infections of LAVs. Inborn errors of immunity (IEIs) underlying bacille Calmette-Guérin (BCG), oral poliovirus (OPV), vaccine measles virus (vMeV), and oral rotavirus vaccine (ORV) disease have been described from 1951, 1963, 1966, and 2009 onward, respectively. For each of these four LAVs, the underlying IEIs show immunological homogeneity despite genetic heterogeneity. Specifically, BCG disease is due to inborn errors of IFN-γ immunity, OPV disease to inborn errors of B cell immunity, vMeV disease to inborn errors of IFN-α/β and IFN-λ immunity, and ORV disease to adaptive immunity. Severe reactions to the other 11 LAVs have been described yet remain Bidiopathic,^in the absence of known underlying inherited or acquired immunodeficiencies, and are warranted to be the focus of research efforts. The study of IEIs underlying life-threatening LAV infections is clinically important for the affected patients and their families, as well as immunologically, for the study of the molecular and cellular basis of host defense against both attenuated and parental pathogens.

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