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Familial hyperinflammatory lymphoproliferative immunodeficiency

MedGen UID:
1842618
Concept ID:
C5680415
Disease or Syndrome
Synonyms: familial hyperinflammatory lymphoproliferative immunodeficiency; HEM1 deficiency syndrome; NCKAP1L-associated hyperinflammatory disorder
 
Monarch Initiative: MONDO:0850069
Orphanet: ORPHA619953

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial hyperinflammatory lymphoproliferative immunodeficiency

Professional guidelines

PubMed

Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT
Haematologica 2015 Jul;100(7):978-88. Epub 2015 May 28 doi: 10.3324/haematol.2014.121608. PMID: 26022711Free PMC Article

Recent clinical studies

Etiology

Meeths M, Horne A, Sabel M, Bryceson YT, Henter JI
Pediatr Blood Cancer 2015 Feb;62(2):346-352. Epub 2014 Nov 8 doi: 10.1002/pbc.25308. PMID: 25382070

Diagnosis

Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT
Haematologica 2015 Jul;100(7):978-88. Epub 2015 May 28 doi: 10.3324/haematol.2014.121608. PMID: 26022711Free PMC Article
Meeths M, Horne A, Sabel M, Bryceson YT, Henter JI
Pediatr Blood Cancer 2015 Feb;62(2):346-352. Epub 2014 Nov 8 doi: 10.1002/pbc.25308. PMID: 25382070

Therapy

Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT
Haematologica 2015 Jul;100(7):978-88. Epub 2015 May 28 doi: 10.3324/haematol.2014.121608. PMID: 26022711Free PMC Article

Prognosis

Meeths M, Horne A, Sabel M, Bryceson YT, Henter JI
Pediatr Blood Cancer 2015 Feb;62(2):346-352. Epub 2014 Nov 8 doi: 10.1002/pbc.25308. PMID: 25382070

Clinical prediction guides

Meeths M, Horne A, Sabel M, Bryceson YT, Henter JI
Pediatr Blood Cancer 2015 Feb;62(2):346-352. Epub 2014 Nov 8 doi: 10.1002/pbc.25308. PMID: 25382070

Supplemental Content

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