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Vogt-Koyanagi-Harada syndrome.
Ohno S, Char DH, Kimura SJ, O'Connor GR. Ohno S, et al. Am J Ophthalmol. 1977 May;83(5):735-40. doi: 10.1016/0002-9394(77)90142-8. Am J Ophthalmol. 1977. PMID: 868972
We studied 51 patients who developed Vogt-Koyanagi-Harada (V-K-H) syndrome after corticosteroid therapy. The final visual acuity was better than 6/15 (20/50) in 50%, and less than 6/60 (20/200) in 25% of the patients. The severity and extraocular manifestations of t …
We studied 51 patients who developed Vogt-Koyanagi-Harada (V-K-H) syndrome after corticosteroid therapy. The final visual acui …
VACTERL-H syndrome.
Herman TE, Siegel MJ. Herman TE, et al. J Perinatol. 2002 Sep;22(6):496-8. doi: 10.1038/sj.jp.7210765. J Perinatol. 2002. PMID: 12168129 No abstract available.
Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia.
Ventura-Espejo L, Gracia-Darder I, Escribá-Bori S, Amador-González ER, Martín-Santiago A, Ramakers J. Ventura-Espejo L, et al. Pediatr Rheumatol Online J. 2021 Jun 30;19(1):104. doi: 10.1186/s12969-021-00586-2. Pediatr Rheumatol Online J. 2021. PMID: 34193201 Free PMC article.
BACKGROUND: H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. ...A previously ordered gene panel for pre-existing sensorineural hearing loss showed a pathological mutation in the SCL29A3 …
BACKGROUND: H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 …
H syndrome: 5 new cases from the United States with novel features and responses to therapy.
Bloom JL, Lin C, Imundo L, Guthery S, Stepenaskie S, Galambos C, Lowichik A, Bohnsack JF. Bloom JL, et al. Pediatr Rheumatol Online J. 2017 Oct 17;15(1):76. doi: 10.1186/s12969-017-0204-y. Pediatr Rheumatol Online J. 2017. PMID: 29041934 Free PMC article.
BACKGROUND: H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. ...Another patient improved on Methotrexate, with further improvement after the addition of …
BACKGROUND: H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and in …
Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation.
Behrangi E, Sadeghzadeh-Bazargan A, Khosravi S, Shemshadi M, Youssefian L, Vahidnezhad H, Goodarzi A, Uitto J. Behrangi E, et al. Dermatol Ther. 2020 Nov;33(6):e14375. doi: 10.1111/dth.14375. Epub 2020 Oct 26. Dermatol Ther. 2020. PMID: 33029882
H syndrome is a complex multi-organ disorder with autosomal recessive inheritance. ...Our objective was to study the efficacy of mycophenolate mofetil in a patient with genetically confirmed H syndrome. We sought the genetic cause of H syndro …
H syndrome is a complex multi-organ disorder with autosomal recessive inheritance. ...Our objective was to study the efficacy …
Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect.
Çağdaş D, Sürücü N, Tan Ç, Kayaoğlu B, Özgül RK, Akkaya-Ulum YZ, Aydınoğlu AT, Aytaç S, Gümrük F, Balci-Hayta B, Balci-Peynircioğlu B, Özen S, Gürsel M, Tezcan İ. Çağdaş D, et al. Mol Immunol. 2020 May;121:28-37. doi: 10.1016/j.molimm.2020.02.014. Epub 2020 Mar 6. Mol Immunol. 2020. PMID: 32151906
INTRODUCTION: H Syndrome is an autosomal recessive (AR) disease caused by defects in SLCA29A3 gene. This gene encodes the equilibrative nucleoside transporter, the protein which is highly expressed in spleen, lymph node and bone marrow. Autoinflammation and autoimmu …
INTRODUCTION: H Syndrome is an autosomal recessive (AR) disease caused by defects in SLCA29A3 gene. This gene encodes the equi …
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.
Kaya Akca U, Simsek Kiper PO, Urel Demir G, Sag E, Atalay E, Utine GE, Alikasifoglu M, Boduroglu K, Bilginer Y, Ozen S. Kaya Akca U, et al. Eur J Med Genet. 2021 Apr;64(4):104185. doi: 10.1016/j.ejmg.2021.104185. Epub 2021 Mar 2. Eur J Med Genet. 2021. PMID: 33662637 Clinical Trial.
The diagnoses of patients were as follows: camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalangeal syndrome (n: 1); progressive pseudorheumatoid dysplasia (n: 2); LIG4 syndrome (n: 1); H syndrome (n: 1); spondyloenchondr …
The diagnoses of patients were as follows: camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalan …
Delayed hemolytic transfusion reaction/hyperhemolysis syndrome in children with sickle cell disease.
Talano JA, Hillery CA, Gottschall JL, Baylerian DM, Scott JP. Talano JA, et al. Pediatrics. 2003 Jun;111(6 Pt 1):e661-5. doi: 10.1542/peds.111.6.e661. Pediatrics. 2003. PMID: 12777582
One complication of alloimmunization is delayed hemolytic transfusion reaction/hyperhemolysis (DHTR/H) syndrome, which has a reported incidence of 11%. In patients with SCD, clinical findings in DHTR/H syndrome occur approximately 1 week after t …
One complication of alloimmunization is delayed hemolytic transfusion reaction/hyperhemolysis (DHTR/H) syndrome, which has a r …
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, Bendavid C, de La Rochebrochard C, Ferry M, David V, Odent S, Laquerrière A. Pasquier L, et al. Acta Neuropathol. 2009 Feb;117(2):185-200. doi: 10.1007/s00401-008-0469-9. Epub 2008 Dec 5. Acta Neuropathol. 2009. PMID: 19057916
Furthermore, complete autopsy made it possible to separate either pure neurologic phenotypes, or associated with extraneural anomalies from syndromic forms: Gomez-Lopez-Hernandez syndrome (1 case) and VACTERL-H syndrome (6 cases). The number of our fetal cases stron …
Furthermore, complete autopsy made it possible to separate either pure neurologic phenotypes, or associated with extraneural anomalies from …
An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome.
Ichiki K, Nakamura T, Fujita N, Honda K, Hiraga T, Ishibashi S, Ishikawa S. Ichiki K, et al. Eur J Endocrinol. 2002 Sep;147(3):357-61. doi: 10.1530/eje.0.1470357. Eur J Endocrinol. 2002. PMID: 12213673
We demonstrate the rare disorder of triple H syndrome in a 25-year-old man. He was pointed out as having short stature, at -5.9 s.d., and diagnosed as GH deficient at 6 years old. ...Replacement by a physiological dose of hydrocortisone normalized plasma glucose, an …
We demonstrate the rare disorder of triple H syndrome in a 25-year-old man. He was pointed out as having short stature, at -5. …
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