List of works - Chaim M Roifman

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

scientific article published on 10 July 2017

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

scientific article

Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs

scientific article

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

scientific article

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

scientific article published in November 2016

Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency

scientific article published on 04 June 2007

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

scientific article published on 09 April 2020

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

scientific article

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

scientific article published on 24 October 2013

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients

scientific article (publication date: 13 December 2012)

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management

scientific article

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

scientific article published on 07 June 2019

Primary immunodeficiencies: 2009 update

scientific article

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

scientific article

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

scientific article (publication date: April 2006)

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

scientific article published on 8 November 2011

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

scientific article

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

scientific article

List of works by Chaim M Roifman

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

Primary immunodeficiencies: 2009 update

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature