List of works - Maya Chrabieh

A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling

scientific article published on 01 December 2006

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

scientific article published on 25 July 2019

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

scientific article

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

scientific article

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

scientific article

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

scientific article published on 2 March 2018

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

scientific article published on 19 September 2016

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

scientific article

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

scientific article published on 14 July 2016

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

scientific article published on February 2017

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

scientific article published on 25 May 2015

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

scientific article

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)

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

scientific article

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

scientific article published on 28 June 2021

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

scientific article published on 09 January 2017

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

scientific article

Invasive pneumococcal disease in children can reveal a primary immunodeficiency

scientific article

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

scientific article published on July 2008

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

scientific article published on 26 May 2011

Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease

scientific article published on 5 May 2016

Pyogenic bacterial infections in humans with MyD88 deficiency

scientific article

Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6.

scientific article published on January 2008

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

scientific article published on 18 December 2018

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

scientific article

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

scientific article published on 01 May 2020

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency

scientific article

List of works by Maya Chrabieh

A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

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

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

Invasive pneumococcal disease in children can reveal a primary immunodeficiency

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease

Pyogenic bacterial infections in humans with MyD88 deficiency

Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6.

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

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

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency