Waleed Al–Herz
A5014024986- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Cystic Fibrosis Research Advances
- Pneumocystis jirovecii pneumonia detection and treatment
- Parvovirus B19 Infection Studies
- Cytomegalovirus and herpesvirus research
- Autoimmune and Inflammatory Disorders Research
- Diabetes and associated disorders
- Congenital Ear and Nasal Anomalies
- Immune responses and vaccinations
- Acute Myeloid Leukemia Research
- Pediatric health and respiratory diseases
- Platelet Disorders and Treatments
- Cellular Mechanics and Interactions
- CAR-T cell therapy research
- Hematopoietic Stem Cell Transplantation
- Eosinophilic Esophagitis
- Food Allergy and Anaphylaxis Research
- Cell Adhesion Molecules Research
- Pluripotent Stem Cells Research
- Chronic Lymphocytic Leukemia Research
- NF-κB Signaling Pathways
- Asthma and respiratory diseases
Kuwait University
2016-2025
Al-Sabah Hospital
2016-2025
Ministry of Health
2024
British School at Rome
2013
AO Foundation
2013
Menlo School
2013
Uppsala University
2013
Alfred I. duPont Hospital for Children
2002-2003
University Medical Center
2003
University of Kansas Medical Center
2003
Abstract We report the updated classification of Inborn Errors Immunity/Primary Immunodeficiencies, compiled by International Union Immunological Societies Expert Committee. This documents key clinical and laboratory features 430 inborn errors immunity, including 64 gene defects that have either been discovered in past 2 years since previous update (published January 2018) or were characterized earlier but confirmed expanded upon subsequent studies. The application next-generation sequencing...
Abstract We report the updated classification of inborn errors immunity, compiled by International Union Immunological Societies Expert Committee. This documents key clinical and laboratory features 55 novel monogenic gene defects, 1 phenocopy due to autoantibodies, that have either been discovered since previous update (published January 2020) or were characterized earlier but confirmed expanded in subsequent studies. While variants additional genes associated with immune diseases reported...
Beginning in 1970, a committee was constituted under the auspices of World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, International Union Immunological Societies (IUIS) took remit this committee. The current report details categorization and listing 354 (as February 2017) inborn errors immunity. growth increasing complexity field have been impressive, encompassing an variety conditions, classification described here will serve as critical reference...
We report the updated classification of primary immunodeficiency diseases, compiled by ad hoc Expert Committee International Union Immunological Societies. As compared to previous edition, more than 15 novel disease entities have been added in version. For each disorders, key clinical and laboratory features are provided. This is meant help diagnostic approach patients with these diseases.
Abstract Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors Immunity (IEI) has published an updated phenotypic classification IEI, which accompanies and complements their genotypic into ten tables. This is user-friendly serves as a resource for clinicians at bedside. There are now 430 single-gene IEI underlying phenotypes diverse infection, malignancy, allergy, autoimmunity, autoinflammation. We herein report 2019 classification,...
Wiskott-Aldrich syndrome gene therapy is feasible, but γ-retroviral vectors contribute a substantial risk of leukemogenesis.
Since the 1990s, International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors Immunity Committee, has published every other year a classification inborn errors immunity. This complete catalog serves as reference for immunologists and researchers worldwide. However, it was unadapted clinicians at bedside. For those, IUIS EC is publishing phenotypical since 2013, which proved to be more user-friendly. There are 320 single-gene immunity underlying...
Inherited, complete deficiency of human HOIL-1, a component the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. We report clinical description molecular analysis novel inherited disorder LUBAC complex. A patient with multiorgan combined immunodeficiency, subclinical amylopectinosis, systemic lymphangiectasia, is homozygous for mutation in HOIP, gene encoding catalytic LUBAC. The missense allele (L72P, PUB domain) at least...
Patients with mutations of the recombination-activating genes (RAG) present diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, incidence extent dysregulation in RAG-dependent immunodeficiency have not been studied detail. Here, we demonstrated that patients hypomorphic RAG mutations, especially those delayed-onset granulomatous/autoimmune manifestations (CID-G/AI), produce a broad spectrum autoantibodies. Neutralizing...
Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that present quantitatively or functionally deficient. Impaired humoral is also common. Patients have severe infections, autoimmunity, both. The specific molecular, cellular, and clinical features many types combined remain unknown. Methods We performed genetic cellular immunologic studies involving five unrelated children with early-onset invasive bacterial viral lymphopenia, defective...
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to large group of RAG-mutated patients, we aimed at characterizing the immunopathology associated each phenotype. Although defective T B cell development is common all phenotypes, patients hypomorphic RAG variants generate cells signatures immune dysregulation produce autoantibodies broad range self-antigens, including type I interferons....
CLASSIFICATION article Front. Immunol., 08 November 2011Sec. Primary Immunodeficiencies volume 2 - 2011 | https://doi.org/10.3389/fimmu.2011.00054
Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these also infection-associated inflammatory states lacking genetic defects typically predisposing lymphohistiocytosis. These include those primary immunodeficiencies, whom the pathogenesis may be distinctive aggressive...