Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

Journal
Frontiers in Pediatrics
ISSN
2296-2360
Date Issued
2019
Author(s)
Aidé Tamara Staines Boone
Ivan K. Chinn
Carmen Alaez-Versón
Marco A. Yamazaki-Nakashimada
Karol Carrillo-Sánchez
María de la Luz Hortensia García-Cruz
M. Edith González Serrano
Edgar A. Medina Torres
David Muzquiz Zermeño
Lisa R. Forbes
Francisco J. Espinosa-Rosales
Sara E. Espinosa-Padilla
Jordan S. Orange
Saul Oswaldo Lugo Reyes
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85064321747
WoS ID
WOS:000456230400001
DOI
URL
URL Institutional Repository
Cite this document
Staines Boone, A. T., Chinn, I. K., Alaez-Versón, C., Yamazaki-Nakashimada, M. A., Carrillo-Sánchez, K., García-Cruz, M. D. L. L. H., Poli, M. C., González Serrano, M. E., Medina Torres, E. A., Muzquiz Zermeño, D., Forbes, L. R., Espinosa-Rosales, F. J., Espinosa-Padilla, S. E., Orange, J. S., & Lugo Reyes, S. O. (2019). Failing to make ends meet: The broad clinical spectrum of dna ligase iv deficiency. Case series and review of the literature. Frontiers in Pediatrics, 6, 426. https://doi.org/10.3389/fped.2018.00426
Subjects
dna repair defects

; 

ligase iv deficiency

; 

primary immunodeficiency

; 

inborn error of immunity

; 

case series

; 

clinical spectrum

; 

alanine aminotransferase

; 

alkaline phosphatase

; 

antibiotic agent

; 

aspartate aminotransferase

; 

bilirubin glucuronide

; 

carboxyfluorescein diacetate succinimidyl ester

; 

cd4 antigen

; 

cotrimoxazole

; 

cyclophosphamide

; 

dna ligase

; 

dna ligase iv

; 

ferritin

; 

fibrinogen

; 

gamma glutamyltransferase

; 

ganciclovir

; 

immunoglobulin

; 

immunoglobulin e

; 

immunoglobulin g

; 

immunoglobulin m

; 

milrinone

; 

molgramostim

; 

transfer factor

; 

triacylglycerol

; 

unclassified drug

; 

ursodeoxycholic acid

; 

acinetobacter baumannii

; 

anemia

; 

antibiotic prophylaxis

; 

aplasia

; 

article

; 

artificial ventilation

; 

autopsy

; 

avascular necrosis

; 

b lymphocyte

; 

bcg vaccination

; 

body dysmorphic disorder

; 

bone marrow biopsy

; 

bone marrow cancer

; 

bone marrow depression

; 

bronchiectasis

; 

cd4+ t lymphocyte

; 

cd8+ t lymphocyte

; 

child

; 

chronic liver disease

; 

clinical article

; 

computer assisted tomography

; 

cytomegalovirus

; 

diaper dermatitis

; 

diffuse large b cell lymphoma

; 

disease severity

; 

dna ligase iv deficiency

; 

enterobacter aerogenes

; 

enterococcus faecium

; 

esophagus varices

; 

facies

; 

female

; 

femoral head

; 

fever

; 

flow cytometry

; 

gastroenteritis

; 

gastrointestinal hemorrhage

; 

gastrointestinal infection

; 

heart failure

; 

hepatosplenomegaly

; 

hip dysplasia

; 

human

; 

human tissue

; 

hypertransaminasemia

; 

immune deficiency

; 

immunoglobulin deficiency

; 

infant

; 

jaundice

; 

leukemia

; 

lymphocyte proliferation

; 

lymphocyte subpopulation

; 

lymphocytopenia

; 

male

; 

mediastinum mass

; 

mental deficiency

; 

metabolic acidosis

; 

microcephaly

; 

micrognathia

; 

milk allergy

; 

nijmegen breakage syndrome

; 

nonhodgkin lymphoma

; 

obesity

; 

pancytopenia

; 

pharyngitis

; 

pneumonia

; 

portal hypertension

; 

preschool child

; 

primary amenorrhea

; 

radiosensitivity

; 

reduced intensity conditioning

; 

respiratory distress

; 

respiratory tract infection

; 

sclerosing cholangitis

; 

sepsis

; 

short stature

; 

speech delay

; 

stem cell transplantation

; 

thorax radiography

; 

thrombocytopenia

; 

thrush

; 

tuberculin test

; 

ulcer

; 

urinary tract infection

; 

vagina candidiasis

; 

virus encephalitis

; 

virus load

; 

whole exome sequencing