Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1) (Q36384593)

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7 January 2020

title

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1) (English)

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4

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Joao B. Oliveira

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1

Gulbu Uzel

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3

Sergio D Rosenzweig

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Mitchell E Horwitz

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Gilda F Linton

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Thomas A Fleisher

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7 January 2020

author name string

Emilia Tng

2

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7 January 2020

Jacqueline M Shaw

5

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Stacie M Anderson

8

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Martha R Kirby

9

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Margaret R Brown

11

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S K Alex Law

13

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Steven M Holland

14

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language of work or name

English

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publication date

17 September 2007

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7 January 2020

number of pages

10

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inferred from page(s)

published in

Blood

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volume

111

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issue

1

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page(s)

209-218

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In vivo reversion to normal of inherited mutations in humans

7 January 2020

cites work

1 reference

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Beta2 integrins are required for skin homing of primed T cells but not for priming naive T cells

30 September 2017

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Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

30 September 2017

1 reference

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T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation

30 September 2017

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Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome

30 September 2017

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Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

30 September 2017

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Genetic analysis of integrin function in man: LAD-1 and other syndromes.

30 September 2017

1 reference

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Revertant mosaicism in human genetic disorders

30 September 2017

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Inherited deficiency of the Mac-1, LFA-1, p150,95 glycoprotein family and its molecular basis

30 September 2017

1 reference

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Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency

30 September 2017

1 reference

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Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

30 September 2017

1 reference

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Procedural guidelines for performing immunophenotyping by flow cytometry

30 September 2017

1 reference

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Leukocyte adhesion molecules deficiency: its structural basis, pathophysiology and implications for modulating the inflammatory response

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200806

Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID)

30 September 2017

1 reference

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Prevalence of dystrophin-positive fibers in 85 Duchenne muscular dystrophy patients

30 September 2017

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Reverse mutations--spontaneous amelioration or cure of inherited disorders?

30 September 2017

1 reference

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Phenotypic and functional separation of memory and effector human CD8+ T cells

28 June 2018

1 reference

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Leucocyte adhesion deficiency presenting as a chronic ileocolitis

28 June 2018

1 reference

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A Point Mutation Associated with Leukocyte Adhesion Deficiency Type 1 of Moderate Severity

28 June 2018

1 reference

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Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins

28 June 2018

1 reference

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Rap1A positively regulates T cells via integrin activation rather than inhibiting lymphocyte signaling

28 June 2018

1 reference

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Characterization of two new CD18 alleles causing severe leukocyte adhesion deficiency

21 September 2018

1 reference

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Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins

21 September 2018

1 reference

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Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

21 September 2018

1 reference

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Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

5 December 2018

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12 December 2020

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

1 reference

12 December 2020

Rapid quantification of mixed chimerism using multiplex amplification of short tandem repeat markers and fluorescence detection

1 reference

12 December 2020

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency

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12 December 2020

Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1

1 reference

12 December 2020

A novel point mutation in CD18 causing the expression of dysfunctional CD11/CD18 leucocyte integrins in a patient with leucocyte adhesion deficiency (LAD)

1 reference

12 December 2020

Dysfunctional LAD-1 neutrophils and colitis

1 reference

12 December 2020

Characterization of four CD18 mutants in leucocyte adhesion deficient (LAD) patients with differential capacities to support expression and function of the CD11/CD18 integrins LFA-1, Mac-1 and p150,95

1 reference

12 December 2020

An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein

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12 December 2020

Recurrent infections and delayed separation of the umbilical cord in an infant with abnormal phagocytic cell locomotion and oxidative response during particle phagocytosis

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12 December 2020

A human lymphocyte-associated antigen involved in cell-mediated lympholysis

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12 December 2020

A phenotypically normal revertant of an adenosine deaminase-deficient lymphoblast cell line

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12 December 2020

The human lymphocyte function-associated (HLFA) antigen and a related macrophage differentiation antigen (HMac-1): functional effects of subunit-specific monoclonal antibodies

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12 December 2020

The Severe and Moderate Phenotypes of Heritable Mac-1, LFA-1 Deficiency: Their Quantitative Definition and Relation to Leukocyte Dysfunction and Clinical Features

1 reference

12 December 2020

Molecular characterization of leukocyte adhesion deficiency in six patients

1 reference

12 December 2020

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1 reference

12 December 2020

10.1182/BLOOD-2007-04-082552

Identifiers

DOI

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7 January 2020

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7 January 2020

PubMed publication ID

17875809

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