Talal Imad Mousallem

Journal Article J Clin Immunol · April 27, 2024 PURPOSE: Patients with adenosine deaminase 1 deficient severe combined immunodeficiency (ADA-SCID) are initially treated with enzyme replacement therapy (ERT) with polyethylene glycol-modified (PEGylated) ADA while awaiting definitive treatment with hemato ... Full text Link to item Cite

Clinical and functional spectrum of RAC2-related immunodeficiency.

Journal Article Blood · April 11, 2024 Mutations in the small Rho-family guanosine triphosphate hydrolase RAC2, critical for actin cytoskeleton remodeling and intracellular signal transduction, are associated with neonatal severe combined immunodeficiency (SCID), infantile neutrophilic disorder ... Full text Link to item Cite

Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.

Journal Article Clin Immunol · April 2024 Severe combined immunodeficiency (SCID) is characterized by a severe deficiency in T cell numbers. We analyzed data collected (n = 307) for PHA-based T cell proliferation from the PIDTC SCID protocol 6901, using either a radioactive or flow cytometry metho ... Full text Link to item Cite

Pediatric oral food challenges in the outpatient setting: A single-center experience.

Journal Article J Allergy Clin Immunol Glob · February 2024 BACKGROUND: Oral food challenge (OFC) is the criterion standard for diagnosing food allergy (FA). It is important to have parameters to aid in selecting ideal OFC candidates. OBJECTIVE: We sought to characterize outcomes and predictors of OFCs for common f ... Full text Link to item Cite

Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.

Journal Article J Allergy Clin Immunol · January 2024 BACKGROUND: The Primary Immune Deficiency Treatment Consortium (PIDTC) enrolled children in the United States and Canada onto a retrospective multicenter natural history study of hematopoietic cell transplantation (HCT). OBJECTIVE: We investigated outcomes ... Full text Link to item Cite

Case Report: Profound newborn leukopenia related to a novel RAC2 variant.

Journal Article Front Pediatr · 2024 We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia. He did not pass early confirmatory hearing screens. Ini ... Full text Open Access Link to item Cite

Case Report: Aplastic anemia related to a novel CTLA4 variant.

Journal Article Front Pediatr · 2024 A 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections. Bone marro ... Full text Open Access Link to item Cite

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.

Journal Article J Allergy Clin Immunol · December 2023 BACKGROUND: Chronic granulomatous disease (CGD) is caused by defects in any 1 of the 6 subunits forming the nicotinamide adenine dinucleotide phosphate oxidase complex 2 (NOX2), leading to severely reduced or absent phagocyte-derived reactive oxygen specie ... Full text Link to item Cite

Clinical implications of inherited chromosomally integrated HHV-6 in the setting of ADA-deficient severe combined immunodeficiency (SCID).

Journal Article J Allergy Clin Immunol Pract · November 2023 Full text Link to item Cite

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Journal Article J Allergy Clin Immunol · April 2023 BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. OBJECTIVE: This pivotal ... Full text Link to item Cite

Team Approach: Metal Hypersensitivity in Total Joint Arthroplasty.

Journal Article JBJS Rev · January 1, 2023 »: As total joint arthroplasty volume continues to grow nationwide, more uncommon complications such as metal implant hypersensitivity are reported with greater frequency in the literature. »: Metal hypersensitivity is a challenging diagnosis given the pot ... Full text Link to item Cite

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.

Journal Article J Clin Immunol · November 2022 Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 pa ... Full text Link to item Cite

Combined immunodeficiency presenting as autoimmune hemolytic anemia

Journal Article Journal of Allergy and Clinical Immunology · February 2017 Full text Cite

Bone marrow transplantation for CVID-like humoral immune deficiency associated with red cell aplasia.

Journal Article Pediatr Blood Cancer · October 2016 Patients with common variable immunodeficiency (CVID) have a higher incidence of autoimmune disease, which may mark the disease onset; however, anemia secondary to pure red cell aplasia is an uncommon presenting feature. Here, we describe a case of CVID-li ... Full text Link to item Cite

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Journal Article J Clin Immunol · July 2016 The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic gene mutations had not been identified. Remarkably, four unrelated patients were found by next gene ... Full text Open Access Link to item Cite

Clinical application of whole-genome sequencing in patients with primary immunodeficiency.

Journal Article J Allergy Clin Immunol · August 2015 This report illustrates the value of whole genome sequencing (WGS) in elucidating the genetic cause of disease in patients with primary immunodeficiency (PID). As sequencing costs decline, we predict that utilization of next generation sequencing (NGS) in ... Full text Link to item Cite

A nonsense mutation in IKBKB causes combined immunodeficiency.

Journal Article Blood · September 25, 2014 Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system. We report here the cause of combined immunodeficiency in 4 patients from 2 different consanguineo ... Full text Link to item Cite

Whole-Exome Sequencing Reveals IKBKB As a Cause of Combined Immunodeficiency

Conference Journal of Allergy and Clinical Immunology · February 2014 Full text Cite

Oral allergy syndrome

Chapter · 2014 Cite

Yao Syndrome in a Child with C2 Deficiency.

Journal Article J Allergy Clin Immunol Pract · August 14, 2024 Full text Link to item Cite

Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.

Clinical and functional spectrum of RAC2-related immunodeficiency.

Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.

Pediatric oral food challenges in the outpatient setting: A single-center experience.

Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.

Case Report: Profound newborn leukopenia related to a novel RAC2 variant.

Case Report: Aplastic anemia related to a novel CTLA4 variant.

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.

Clinical implications of inherited chromosomally integrated HHV-6 in the setting of ADA-deficient severe combined immunodeficiency (SCID).

Journal Article J Allergy Clin Immunol Pract · November 2023 Full text Link to item Cite

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Team Approach: Metal Hypersensitivity in Total Joint Arthroplasty.

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.

Combined immunodeficiency presenting as autoimmune hemolytic anemia

Journal Article Journal of Allergy and Clinical Immunology · February 2017 Full text Cite

Bone marrow transplantation for CVID-like humoral immune deficiency associated with red cell aplasia.

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Clinical application of whole-genome sequencing in patients with primary immunodeficiency.

A nonsense mutation in IKBKB causes combined immunodeficiency.

Whole-Exome Sequencing Reveals IKBKB As a Cause of Combined Immunodeficiency

Conference Journal of Allergy and Clinical Immunology · February 2014 Full text Cite

Oral allergy syndrome

Chapter · 2014 Cite

Next Generation Sequencing May Be More Efficient and Economical Than Targeted Gene Testing in Patients with Primary Immune Deficiency (PID)

Conference Journal of Allergy and Clinical Immunology · February 2013 Full text Cite

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

Journal Article Electrophoresis · December 2012 Four patients with juvenile neuronal ceroid lipofuscinoses, a childhood neurodegenerative disorder that was previously described as CLN9 variant, are reclassified as CLN5 disease. CLN5-deficient (CLN5(-/-) ) fibroblasts demonstrate adhesion defects, increa ... Full text Link to item Cite

Future therapies for food allergy.

Journal Article Hum Vaccin Immunother · October 2012 Food allergy affects 3.9% of US children and is increasing in prevalence. The current standard of care involves avoidance of the triggering food and treatment for accidental ingestions. While there is no current curative treatment, there are a number of th ... Full text Link to item Cite

Immunology in the Clinic Review Series; focus on allergies: immunotherapy for food allergy.

Journal Article Clin Exp Immunol · January 2012 There is no approved therapy for food allergy. The current standard of care is elimination of the triggering food from the diet and accessibility to epinephrine. Immunotherapy is a promising treatment approach. While desensitization to most foods seems fea ... Full text Link to item Cite

Synergistic control of T cell development and tumor suppression by diacylglycerol kinase alpha and zeta.

Journal Article Proc Natl Acad Sci U S A · August 19, 2008 Diacylglycerol (DAG) kinases (DGKs) are a family of enzymes that convert DAG to phosphatidic acid (PA), the physiologic functions of which have been poorly defined. We report here that DGK alpha and zeta synergistically promote T cell maturation in the thy ... Full text Link to item Cite

CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.

Journal Article Pediatr Res · June 2008 Juvenile neuronal ceroid lipofuscinosis (JNCL) belongs to the neuronal ceroid lipofuscinoses characterized by blindness/seizures/motor/cognitive decline and early death. JNCL is caused by CLN3 gene mutations that negatively modulate cell growth/apoptosis. ... Full text Link to item Cite

Neuronal ceroid lipofuscinosis: a common pathway?

Journal Article Pediatr Res · February 2007 The neuronal ceroid lipofuscinoses are pediatric neurodegenerative diseases with common clinical features. Of the nine clinical variants (CLN1-CLN9), six have been genetically identified. Most variants manifest cell death and dysregulated sphingolipid meta ... Full text Link to item Cite