Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia

about

Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia

Item

http://www.wikidata.org/entity/Q57486600

description

article

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована у 2018

@uk

name

Heterozygous Mutation in Adeno ...... of Autoimmune Hemolytic Anemia

@en

Heterozygous Mutation in Adeno ...... of Autoimmune Hemolytic Anemia

@nl

type

Item

label

Heterozygous Mutation in Adeno ...... of Autoimmune Hemolytic Anemia

@en

Heterozygous Mutation in Adeno ...... of Autoimmune Hemolytic Anemia

@nl

prefLabel

Heterozygous Mutation in Adeno ...... of Autoimmune Hemolytic Anemia

@en

Heterozygous Mutation in Adeno ...... of Autoimmune Hemolytic Anemia

@nl

P1476

Heterozygous Mutation in Adeno ...... of Autoimmune Hemolytic Anemia

@en

P2093

Andrea Biondi

http://www.w3.org/2001/XMLSchema#string

Arnalda Lanfranchi

http://www.w3.org/2001/XMLSchema#string

Paola Corti

http://www.w3.org/2001/XMLSchema#string

Raffaele Badolato

http://www.w3.org/2001/XMLSchema#string

Serena I Tripodi

http://www.w3.org/2001/XMLSchema#string

Silvia Giliani

http://www.w3.org/2001/XMLSchema#string

P2860

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles

Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency.

Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.

Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.

Pathologic findings in adenosine deaminase deficient-severe combined immunodeficiency. II. Thymus, spleen, lymph node, and gastrointestinal tract lymphoid tissue alterations.

Gene therapy for adenosine-deaminase-deficient severe combined immunodeficiency.

Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID

How I treat ADA deficiency.

Isozymes of adenosine deaminase.

Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.

P304

272

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

case report

P356

10.3389/FPED.2018.00272

http://www.w3.org/2001/XMLSchema#string

P407

English

P478

http://www.w3.org/2001/XMLSchema#string

P577

2018-01-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

30327760

http://www.w3.org/2001/XMLSchema#string

P932

6174357

http://www.w3.org/2001/XMLSchema#string