KEGG DISEASE: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

KEGG

DISEASE: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Entry

H02670                      Disease

Name

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Description

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a novel congenital sideroblastic anemia and immunodeficiency syndrome with additional features resembling a mitochondrial cytopathy. SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A72  Sideroblastic anaemia
    H02670  Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Gene

TRNT1 [HSA:51095] [KO:K00974]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD

Title

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Journal

Blood 124:2867-71 (2014)
DOI:10.1182/blood-2014-08-591370

Reference

Authors

Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF

Title

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

Journal

Blood 122:112-23 (2013)
DOI:10.1182/blood-2012-08-439083

LinkDB

» Japanese version

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