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IUIS classification of bone marrow failure (category IX inborn errors of immunity)

IUIS classification of bone marrow failure (category IX inborn errors of immunity)
Disease Genetic defect Inheritance OMIM T cells B cells Other affected cells Associated features
Fanconi anemia type A FA complementation group A (FANCA) AR 227650 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type B FA complementation group B (FANCB) XLR 300514 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type C FA complementation group C (FANCC) AR 227645 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type D1 BRCA2 DNA repair associated (BRCA2) AR 605724 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type D2 FA complementation group D2 (FANCD2) AR 227646 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type E FA complementation group E (FANCE) AR 600901 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type F FA complementation group F (FANCF) AR 603467 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type G FA complementation group G (FANCG) AR 614082 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type I FA complementation group I (FANCI) AR 609053 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type J BRCA1-interacting helicase 1 (BRIP1) AR 609054 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type L FA complementation group L (FANCL) AR 614083 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type M FA complementation group M (FANCM) AR 618096 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type N Partner and localizer of BRCA2 (PALB2) AR 610832 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type O RAD51 paralog C (RAD51C) AR 613390 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type P SLX4 structure-specific endonuclease subunit (SLX4) AR 613951 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type Q ERCC excision repair 4, endonuclease catalytic subunit (ERCC4) AR 615272 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type R RAD51 recombinase (RD51) AR 617244 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type S BRCA1 DNA repair associated (BRCA1) AR 617883 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type T Ubiquitin-conjugating enzyme E2 T (UBE2T) AR 616435 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type U X-ray repair cross complementing 2 (XRCC2) AR 617247 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type V Mitotic arrest-deficient 2-like 2 (MAD2L2) AR 617243 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
Fanconi anemia type W Ring finger and WD repeat domain 3 (RFWD3) AR 617784 Normal to low Normal to low HSCs Normal to low NK cells; CNS, skeletal, skin, cardiac, GI, and urogenital anomalies; increased chromosomal breakage
MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy) Sterile alpha motif domain-containing 9 (SAMD9) AD GOF 617053 Not reported Not reported HSCs, myeloid cells Intrauterine growth retardation, gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen
Ataxia pancytopenia syndrome Sterile alpha motif domain-containing 9-like (SAMD9L) AD GOF 611170 Normal Low HSCs, myeloid cells MDS, neurologic features
Dyskeratosis congenita, XL (DKCX1) Dyskerin pseudouridine synthase 1 (DKC1) XL 305000 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AD 1 (DKCA1) Telomerase RNA component (TERC) AD 127550 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AD 2 (DKCA2) Telomerase reverse transcriptase (TERT) AD 187270 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AD 3 (DKCA3) TERF1-interacting nuclear factor 2 (TINF2) AD 604319 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AD 4 (DKCA4) Regulator of telomere elongation helicase 1 (RTEL1) AD 616373 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AD 5 (DKCA5) TERF1-interacting nuclear factor 2 (TINF2) AD 268130 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AD 6 (DKCA6) ACD shelterin complex subunit and telomerase recruitment factor (ACD) AD 616553 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AR 1 (DKCB1) NOP10 ribonucleoprotein (NOP10) AR 224230 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AR 2 (DKCB2) NHP2 ribonucleoprotein (NHP2) AR 613987 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AR 3 (DKCB3) WD repeat-containing antisense to TP53 (WRAP53) AR 613988 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AR 4 (DKCB4) Telomerase reverse transcriptase (TERT) AR 613989 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Dyskeratosis congenita, AR 5 (DKCB5) Regulator of telomere elongation helicase 1 (RTEL1) AR 615190 Normal to low Low HSCs Nail dystrophy, leukoplakia, bone marrow failure, severe B cell immunodeficiency, intrauterine growth retardation, growth retardation, microcephaly, cerebellar hypoplasia, esophageal dysfunction
Dyskeratosis congenita, AR 6 (DKCB6) Poly(A)-specific ribonuclease (PARN) AR 616353 Normal to low Normal to low HSCs Developmental delay, microcephaly, cerebellar hypoplasia
Dyskeratosis congenita, AR 7 (DKCB7) ACD shelterin complex subunit and telomerase recruitment factor (ACD) AR 616553 Normal to low Normal to low HSCs Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, neurodevelopmental delay
Bone marrow failure syndrome 1 (BMFS1; SRP72 deficiency Signal recognition particle 72 (SRP72) AD 602122 Not applicable Not applicable   Bone marrow failure and congenital nerve deafness
Bone marrow failure syndrome 2 (BMFS2) ERCC excision repair 6-like 2 (ERCC6L2) AR 615667 Not applicable Not applicable   Bone marrow failure, learning difficulties, microcephaly
Bone marrow failure syndrome 5 (BMFS5) Tumor protein p53 (TP53) AD 618165 Not applicable Low B cells   Erythroid hypoplasia, B cell deficiency
Coats plus syndrome STN1 subunit of CST complex (STN1) AR 613128 Normal Normal   Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, GI hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres
CST telomere replication complex component 1 (CTC1) AR 613129 Not reported Not reported   Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, GI hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres
MECOM deficiency MDS1 and EVI1 complex locus (MECOM) AD 616738 Not reported B cell deficiency   Bone marrow failure, thrombocytopenia/pancytopenia, radioulnar synostosis, clinodactyly, cardiac and renal malformations
Total number of mutant genes in table: 44.
IUIS: International Union of Immunological Societies; AR: autosomal recessive; HSC: hematopoietic stem cell; NK: natural killer; CNS: central nervous system; GI: gastrointestinal; XLR: X-linked recessive; DNA: deoxyribonucleic acid; AD: autosomal dominant; GOF: gain of function; MDS: myelodysplastic syndrome; XL: X linked; RNA: ribonucleic acid.
From: Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2022; 42:1473. Copyright © 2022 The Authors. Reproduced under the terms of the Creative Commons Attribution License 4.0.
Graphic 140092 Version 1.0

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