List of works - Raif S. Geha

12. Primary immunodeficiency diseases

scientific article

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton.

scientific article

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

scientific journal article

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

scientific article

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding ⬇️

scientific article published on March 3, 2011

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

scientific article

A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma

scientific article published on 14 September 2020

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

scientific article

Animal models of atopic dermatitis

scientific article

Aspartame: review of safety

scientific article (publication date: April 2002)

Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma

scientific article published on 19 November 2020

Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly

scientific article published on 9 October 2015

Binding of WIP to actin is essential for T cell actin cytoskeleton integrity and tissue homing.

scientific article

Binding of the WASP/N-WASP-interacting protein WIP to actin regulates focal adhesion assembly and adhesion

scientific article

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

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

CCR3 is essential for skin eosinophilia and airway hyperresponsiveness in a murine model of allergic skin inflammation

scientific article

Cdc42 interacting protein 4 (CIP4) is essential for integrin-dependent T-cell trafficking.

scientific article

Cellular and molecular mechanisms in atopic dermatitis

scientific article published on January 2009

Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.

scientific article

Clinical, Immunological and Genetic Spectrum of 696 Patients with Combined Immunodeﬁciency.

scientific article published on 12 September 2017

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

scientific article published on 30 March 2012

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

scientific article published on 17 September 2021

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

scientific article published on 10 October 2017

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

scientific article

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

scientific article

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

scientific article published on 4 February 2013

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations

scientific article

Desloratadine inhibits allergen-induced airway inflammation and bronchial hyperresponsiveness and alters T-cell responses in murine models of asthma

scientific article published in July 2003

Development of skin lesions in filaggrin-deficient mice is dependent on adaptive immunity.

scientific article published in April 2013

Differential role of SLP-76 domains in T cell development and function

scientific article

Enteropathogenic Escherichia coli and vaccinia virus do not require the family of WASP-interacting proteins for pathogen-induced actin assembly

scientific journal article

Eosinophil-derived leukotriene C4 signals via type 2 cysteinyl leukotriene receptor to promote skin fibrosis in a mouse model of atopic dermatitis.

scientific article published on 13 March 2012

Epicutaneous antigen exposure induces a Th17 response that drives airway inflammation after inhalation challenge

scholarly article

Epicutaneous challenge of orally immunized mice redirects antigen-specific gut-homing T cells to the skin ⬇️

scientific article published on May 2, 2011

Epicutaneous sensitization results in IgE-dependent intestinal mast cell expansion and food-induced anaphylaxis.

scientific article published on February 2013

Erk/Src phosphorylation of cortactin acts as a switch on-switch off mechanism that controls its ability to activate N-WASP

scientific article

Exaggerated IL-17 response to epicutaneous sensitization mediates airway inflammation in the absence of IL-4 and IL-13.

scientific article

Filaggrin deficiency promotes the dissemination of cutaneously inoculated vaccinia virus

scientific article

Filaggrin-deficient mice exhibit TH17-dominated skin inflammation and permissiveness to epicutaneous sensitization with protein antigen

scientific article

Filaggrin-dependent secretion of sphingomyelinase protects against staphylococcal α-toxin–induced keratinocyte death ⬇️

scientific article published on December 11, 2012

Food allergy: Insights into etiology, prevention, and treatment provided by murine models.

scientific article published on February 2014

Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration.

scientific article published on 9 June 2017

Hyper IgM Syndrome: a Report from the USIDNET Registry

scientific article published on 17 May 2016

IL-21R is essential for epicutaneous sensitization and allergic skin inflammation in humans and mice.

scientific article published on 15 December 2008

IL-23 induced in keratinocytes by endogenous TLR4 ligands polarizes dendritic cells to drive IL-22 responses to skin immunization

scientific article published on 22 August 2016

IL-33 promotes food anaphylaxis in epicutaneously sensitized mice by targeting mast cells

scientific article published on 2 June 2016

IgG Fc receptor polymorphisms in human disease: implications for intravenous immunoglobulin therapy

scientific article

Immunization with modified vaccinia virus Ankara prevents eczema vaccinatum in a murine model of atopic dermatitis.

scientific article

Impaired IgA class switching in APRIL-deficient mice

scientific article

Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients

scientific article

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

scientific article published on June 2015

Inherited human IFNγ deficiency underlies mycobacterial disease

scientific article published on 12 March 2020

Injury, dysbiosis, and filaggrin deficiency drive skin inflammation through keratinocyte IL-1α release

scientific article published on 19 September 2018

Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function

scientific article

Leukotriene B4-driven neutrophil recruitment to the skin is essential for allergic skin inflammation

scientific article published on 11 October 2012

Ligation of CD46 to CD40 inhibits CD40 signaling in B cells ⬇️

scientific article published on March 1, 2011

Mechanical injury polarizes skin dendritic cells to elicit a T(H)2 response by inducing cutaneous thymic stromal lymphopoietin expression

scientific article

Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation

scientific article (publication date: December 2002)

MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice

scientific article published on 09 August 2018

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

scientific article

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

scientific article published on 12 March 2019

Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy

scientific article

Platelet-associated IgAs and impaired GPVI responses in platelets lacking WIP.

scientific article

Primary immunodeficiencies: 2009 update

scientific article

Primary immunodeficiency diseases: an update

scientific article published in September 2004

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

RORα-expressing T regulatory cells restrain allergic skin inflammation.

scientific article published in March 2018

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

scientific article

Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency

scientific article

TACI is mutant in common variable immunodeficiency and IgA deficiency

scientific article

TSLP acts on infiltrating effector T cells to drive allergic skin inflammation

scholarly article

Targeted inactivation of the IL-4 receptor alpha chain I4R motif promotes allergic airway inflammation

scientific article

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

scientific article

The H1 histamine receptor regulates allergic lung responses.

scientific article

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

scientific article

The mature activating natural killer cell immunologic synapse is formed in distinct stages

scientific article

The microbiota is important for IL-17A expression and neutrophil infiltration in lesional skin of Flg(ft/ft) mice

scientific article

The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation

scientific article

The prostaglandin D₂ receptor CRTH2 is important for allergic skin inflammation after epicutaneous antigen challenge.

scientific article

Thymic stromal lymphopoietin

scientific article

Thymic stromal lymphopoietin and IL-33 promote skin inflammation and vaccinia virus replication in a mouse model of atopic dermatitis

scientific article published on 29 January 2016

Toll-like receptor 9, transmembrane activator and calcium-modulating cyclophilin ligand interactor, and CD40 synergize in causing B-cell activation ⬇️

scientific article published on July 7, 2011

Transcellular diapedesis is initiated by invasive podosomes

scientific article

Vaccinia Ig Ameliorates Eczema Vaccinatum in a Murine Model of Atopic Dermatitis ⬇️

scientific article published on December 22, 2011

Vaccinia virus inoculation in sites of allergic skin inflammation elicits a vigorous cutaneous IL-17 response

scientific article published on 17 August 2009

WAVE2 deficiency reveals distinct roles in embryogenesis and Rac-mediated actin-based motility

scientific journal article

WIP deficiency reveals a differential role for WIP and the actin cytoskeleton in T and B cell activation

scientific article (publication date: February 2002)

WIP is critical for T cell responsiveness to IL-2

scholarly article

Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses

scientific article

Wiskott‐Aldrich syndrome: a comprehensive review ⬇️

scientific article published on March 25, 2013

List of works by Raif S. Geha

12. Primary immunodeficiency diseases

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding ⬇️

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

A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Animal models of atopic dermatitis

Aspartame: review of safety

Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma

Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly

Binding of WIP to actin is essential for T cell actin cytoskeleton integrity and tissue homing.

Binding of the WASP/N-WASP-interacting protein WIP to actin regulates focal adhesion assembly and adhesion

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

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

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

CCR3 is essential for skin eosinophilia and airway hyperresponsiveness in a murine model of allergic skin inflammation

Cdc42 interacting protein 4 (CIP4) is essential for integrin-dependent T-cell trafficking.

Cellular and molecular mechanisms in atopic dermatitis

Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.

Clinical, Immunological and Genetic Spectrum of 696 Patients with Combined Immunodeﬁciency.

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations

Desloratadine inhibits allergen-induced airway inflammation and bronchial hyperresponsiveness and alters T-cell responses in murine models of asthma

Development of skin lesions in filaggrin-deficient mice is dependent on adaptive immunity.

Differential role of SLP-76 domains in T cell development and function

Enteropathogenic Escherichia coli and vaccinia virus do not require the family of WASP-interacting proteins for pathogen-induced actin assembly

Eosinophil-derived leukotriene C4 signals via type 2 cysteinyl leukotriene receptor to promote skin fibrosis in a mouse model of atopic dermatitis.

Epicutaneous antigen exposure induces a Th17 response that drives airway inflammation after inhalation challenge

Epicutaneous challenge of orally immunized mice redirects antigen-specific gut-homing T cells to the skin ⬇️

Epicutaneous sensitization results in IgE-dependent intestinal mast cell expansion and food-induced anaphylaxis.

Erk/Src phosphorylation of cortactin acts as a switch on-switch off mechanism that controls its ability to activate N-WASP

Exaggerated IL-17 response to epicutaneous sensitization mediates airway inflammation in the absence of IL-4 and IL-13.

Filaggrin deficiency promotes the dissemination of cutaneously inoculated vaccinia virus

Filaggrin-deficient mice exhibit TH17-dominated skin inflammation and permissiveness to epicutaneous sensitization with protein antigen

Filaggrin-dependent secretion of sphingomyelinase protects against staphylococcal α-toxin–induced keratinocyte death ⬇️

Food allergy: Insights into etiology, prevention, and treatment provided by murine models.

Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration.

Hyper IgM Syndrome: a Report from the USIDNET Registry

IL-21R is essential for epicutaneous sensitization and allergic skin inflammation in humans and mice.

IL-23 induced in keratinocytes by endogenous TLR4 ligands polarizes dendritic cells to drive IL-22 responses to skin immunization

IL-33 promotes food anaphylaxis in epicutaneously sensitized mice by targeting mast cells

IgG Fc receptor polymorphisms in human disease: implications for intravenous immunoglobulin therapy

Immunization with modified vaccinia virus Ankara prevents eczema vaccinatum in a murine model of atopic dermatitis.

Impaired IgA class switching in APRIL-deficient mice

Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Inherited human IFNγ deficiency underlies mycobacterial disease

Injury, dysbiosis, and filaggrin deficiency drive skin inflammation through keratinocyte IL-1α release

Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function

Leukotriene B4-driven neutrophil recruitment to the skin is essential for allergic skin inflammation

Ligation of CD46 to CD40 inhibits CD40 signaling in B cells ⬇️

Mechanical injury polarizes skin dendritic cells to elicit a T(H)2 response by inducing cutaneous thymic stromal lymphopoietin expression

Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation

MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy

Platelet-associated IgAs and impaired GPVI responses in platelets lacking WIP.

Primary immunodeficiencies: 2009 update

Primary immunodeficiency diseases: an 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

RORα-expressing T regulatory cells restrain allergic skin inflammation.

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency

TACI is mutant in common variable immunodeficiency and IgA deficiency

TSLP acts on infiltrating effector T cells to drive allergic skin inflammation

Targeted inactivation of the IL-4 receptor alpha chain I4R motif promotes allergic airway inflammation

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

The H1 histamine receptor regulates allergic lung responses.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency