Michel J. Massaad
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View article: Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry Open
Background The majority of monogenic inborn errors of immunity presenting as actinopathies were reported originally from the Middle East and North Africa (MENA) countries indicating a high prevalence of these entities in the region. Howeve…
View article: Deciphering the role of IL17RA in psoriasis and chronic mucocutaneous candidiasis: shared pathways and distinct manifestations
Deciphering the role of IL17RA in psoriasis and chronic mucocutaneous candidiasis: shared pathways and distinct manifestations Open
Introduction Psoriasis and chronic mucocutaneous candidiasis (CMC), although distinct in their clinical manifestations, often coexist within specific patient cohorts. Despite this intriguing clinical observation, their genetic etiologies h…
View article: Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6 Open
View article: The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity
The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity Open
View article: Challenges in glioblastoma immunotherapy: mechanisms of resistance and therapeutic approaches to overcome them
Challenges in glioblastoma immunotherapy: mechanisms of resistance and therapeutic approaches to overcome them Open
View article: Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain
Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain Open
The interleukin-7 receptor (IL-7R) is expressed on lymphoid cells and plays an important role in the development, homeostasis, survival, and proliferation of T cells. Bi-allelic mutations in the IL-7Rα chain abolish T cell development and …
View article: Author Correction: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation
Author Correction: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation Open
View article: Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex Open
The coat protein I (COPI) complex mediates retrograde trafficking from the Golgi to the endoplasmic reticulum (ER). Five siblings with persistent bacterial and viral infections and defective humoral and cellular immunity had a homozygous p…
View article: Frequency and Manifestations of Autoimmunity Among Children Registered in the Kuwait National Primary Immunodeficiency Registry
Frequency and Manifestations of Autoimmunity Among Children Registered in the Kuwait National Primary Immunodeficiency Registry Open
Objectives: To present a prospective report on the characteristics of autoimmune manifestations in patients with primary immunodeficient children registered in the Kuwait National PIDs Registry (KNPIDR). Methods: The data wer…
View article: Inherited human IFN-γ deficiency underlies mycobacterial disease
Inherited human IFN-γ deficiency underlies mycobacterial disease Open
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective predisposition to clinical disease caused by the Bacille Calmette-Guérin (BCG) vaccine and environmental mycobacteria. The known genetic etiologies of…
View article: Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation Open
View article: Combined immunodeficiency in a patient with c-Rel deficiency
Combined immunodeficiency in a patient with c-Rel deficiency Open
View article: Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population Open
Objective: To present the genetic causes of patients with primary immune deficiencies (PIDs) in Kuwait between 2004 and 2017.
View article: The Lack of WIP Binding to Actin Results in Impaired B Cell Migration and Altered Humoral Immune Responses
The Lack of WIP Binding to Actin Results in Impaired B Cell Migration and Altered Humoral Immune Responses Open
View article: DOCK8 Deficiency Presenting as an IPEX-Like Disorder
DOCK8 Deficiency Presenting as an IPEX-Like Disorder Open
View article: Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT
Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT Open
Key Points CDH17 is expressed in human thymic epithelial cells. CDH17 mutations may be a rare cause of leaky severe combined immune deficiency that can be corrected by HSCT.
View article: DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile
DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile Open
View article: 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
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 Open
Mutations of the recombinase-activating genes 1 and 2 (RAG1 and RAG2) in humans are associated with a broad range of phenotypes. For patients with severe clinical presentation, hematopoietic stem cell transplantation (HSCT) r…
View article: Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency Open
View article: Disseminated $\textit{Mycobacterium malmoense}$ and $\textit{Salmonella}$ Infections Associated with a Novel Variant in $\textit{NFKBIA}$
Disseminated $\textit{Mycobacterium malmoense}$ and $\textit{Salmonella}$ Infections Associated with a Novel Variant in $\textit{NFKBIA}$ Open
View article: Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA Open
View article: 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 Content
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 Content Open
[This corrects the article on p. 798 in vol. 8, PMID: 28769923.].
View article: Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site
Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site Open
View article: Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity Open
Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we have identified a homozygous missense mutation in the gene encoding the base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abo…
View article: A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton
A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton Open
Wiskott-Aldrich syndrome (WAS) is associated with mutations in the WAS protein (WASp), which plays a critical role in the initiation of T cell receptor-driven (TCR-driven) actin polymerization. The clinical phenotype of WAS includes suscep…
View article: Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency
Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency Open
View article: Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation
Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation Open
View article: A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency Open
View article: Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association Open
View article: Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections Open
Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that are present are quantitatively or functionally deficient. Impaired humoral immunity is also common. Patients have severe infect…