Successful unrelated cord blood transplant for complete IFN-γ receptor 2 deficiency

Kamoun, Camilia; Morsheimer, Megan; Sullivan, Kathleen E.; Holland, Steven M.; Rundles, Charlotte Cunningham; Bunin, Nancy; Heimall, Jennifer

doi:10.1016/j.jaci.2016.06.017

Cited by 8 publications

(8 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Since the discovery of its first genetic etiology in 1996, MSMD has been reported and a causal genetic lesion described in 501 individuals from 356 kindreds originating from 57 countries on five continents (Figure a). Over this period, the genetic dissection of MSMD in these patients has revealed this condition to be caused by inborn errors of interferon (IFN)‐γ immunity . These findings confirm that IFN‐γ, first described in 1965 as an antiviral IFN, is actually the macrophage‐activating factor, as shown in 1983 .…”

Section: Introductionsupporting

confidence: 61%

“…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 . We also discuss here two recently reported syndromic forms of MSMD: AR RORγ/RORγT and Janus kinase (JAK)1 deficiencies .…”

Section: Introductionmentioning

confidence: 80%

“…Since 2014, 34 new disease‐causing mutations have been reported at six MSMD loci already discovered before this date, including IFNGR1, IFNGR2 , IL12RB1 , IL12B , STAT1 and NEMO . Interestingly, the two new hypomorphic NEMO mutations underlie mycobacterial diseases without anhidrotic ectodermal dysplasia .…”

Section: New Mutations At Known Msmd Locimentioning

confidence: 99%

See 2 more Smart Citations

Mendelian susceptibility to mycobacterial disease: 2014–2018 update

et al. 2018

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionsupporting

confidence: 61%

Section: Introductionmentioning

confidence: 80%

See 1 more Smart Citation

Mendelian susceptibility to mycobacterial disease: 2014–2018 update

et al. 2018

View full text Add to dashboard Cite

show abstract

“…IFNγ-R2 deficiency is rare; the gene maps to 21q22.1-22-2. From the first report [15], eleven patients from eight kindreds with AR complete IFN-γR2 deficiency have been described [16][17][18][19][20]. Here, we report a patient with AR complete IFN-γR2 deficiency (OMIM #147569) who had severe recurrent infections with Mycobacterium avium and was successfully treated with HSCT from a matched unrelated donor.…”

mentioning

confidence: 91%

“…The older brother after full hematological engraftment developed fulminant catheter-associated Serratia marcescens septicemia and died, and the second son was successfully treated with paternal cells [ 16 ]. Another patient after myeloablative conditioning regimen received an unrelated umbilical cord blood unit 5/6 matched [ 18 ]. Other two siblings were successfully transplanted with haplotype-matched bone marrow from the father [ 20 ].…”

mentioning

confidence: 99%