Zahra Chavoshzadeh
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View article: Measuring Dedicator of Cytokinesis 8 (DOCK8) Expression as a Flow Cytometry Biomarker for DOCK8 Deficiency Detection
Measuring Dedicator of Cytokinesis 8 (DOCK8) Expression as a Flow Cytometry Biomarker for DOCK8 Deficiency Detection Open
The autosomal recessive form of hyperimmunoglobulin E syndrome (AR-HIES), caused by mutations in the DOCK8 (Dedicator of Cytokinesis 8) gene, presents a wide range of clinical manifestations and phenotypically overlaps with several types o…
View article: When the unexpected strikes: hepatocellular carcinoma in a teen with ataxia-telangiectasia
When the unexpected strikes: hepatocellular carcinoma in a teen with ataxia-telangiectasia Open
Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and profound immunodeficiency. Although individuals with A-T exhibit a heightened…
View article: Thrombocytopenia in patients with inborn errors of immunity
Thrombocytopenia in patients with inborn errors of immunity Open
The significant association between thrombocytopenia with lymphoproliferation and autoimmunity emphasizes the importance of paying attention to these clinical features for suspecting IEI disorders. Understanding the pathophysiology of thro…
View article: A Report on the Clinical Efficacy of Rituximab Administration in Patients with Inborn Errors of Immunity and Autoimmune/Autoinflammatory Manifestations
A Report on the Clinical Efficacy of Rituximab Administration in Patients with Inborn Errors of Immunity and Autoimmune/Autoinflammatory Manifestations Open
It can sometimes be very difficult to control the manifestations of autoimmunity and lymphoproliferation in patients with primary immunodeficiency diseases, and there is no adequate response to first-line treatments. Rituximab (RTX), as a …
View article: Sexual Dysfunction in Moroccan Cervical Cancer Survivors: A Prospective Study of 220 Patients
Sexual Dysfunction in Moroccan Cervical Cancer Survivors: A Prospective Study of 220 Patients Open
Introduction Cervical cancer and its treatments can have a significant impact on various aspects of sexual health, including physical function, emotional well-being, and intimate relationships. Survivors often face changes in body image,…
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: Rheumatologic manifestations in children with underlying inborn errors of immunity
Rheumatologic manifestations in children with underlying inborn errors of immunity Open
View article: Valid consent in the acute hospital setting: perspectives of nursing and medical professionals from a survey-based study
Valid consent in the acute hospital setting: perspectives of nursing and medical professionals from a survey-based study Open
Background In healthcare, consent refers to the act of granting permission or agreement for treatment and care, investigation, receiving or utilising a service, or participating in research or teaching. Consent should be an ongoing process…
View article: Leukocyte adhesion deficiency type III in an infant presenting with intestinal perforation and low percentage of natural killer cells: first case report from Iran
Leukocyte adhesion deficiency type III in an infant presenting with intestinal perforation and low percentage of natural killer cells: first case report from Iran Open
View article: Gastrointestinal Manifestations in Children with Immunodeficiency Referred to a Tertiary Hospital
Gastrointestinal Manifestations in Children with Immunodeficiency Referred to a Tertiary Hospital Open
Background: The gastrointestinal (GI) tract can be affected by immunodeficiency disorders. This study aimed to evaluate GI manifestations in children with immunodeficiency. Methods: This cross-sectional study retrospectively evaluated immu…
View article: Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP
Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP Open
Jagunal-homolog1 (JAGN1) is an endoplasmic reticulum–resident protein, which is part of the early secretory pathway and granulocyte colony-stimulating factor (CSF; G-CSF) receptor–mediated signaling. Autosomal recessively inherited variant…
View article: COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report Open
View article: Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series
Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series Open
Background: Elevated level of double-negative T (DNT) cells is a historical hallmark of autoimmune lymphoproliferative syndrome (ALPS) diagnosis. However, the peripheral blood level of DNT cells might also be compromised in autoimmune lymp…
View article: Interstitial lung diseases (ILD) in common variable immunodeficiency (CVID) patients: a study from Iran
Interstitial lung diseases (ILD) in common variable immunodeficiency (CVID) patients: a study from Iran Open
Introduction Interstitial lung disease (ILD) is a prevalent complication in patients with common variable immunodeficiency (CVID) and is often related to other characteristics such as bronchiectasis and autoimmunity. Because the term ILD e…
View article: Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort
Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort Open
Patients with very early-onset inflammatory bowel disease (VEO-IBD) may present because of underlying monogenic inborn errors of immunity (IEI). Strong differences have been observed in the causes of monogenic IBD among ethnic populations.…
View article: COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report Open
Background The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, and whether vaccination attenuates infection severity in IEI. Objective To estimat…
View article: IgG4-Related Lung Disease in a Patient with Chronic Granulomatous Disease: A Case Report.
IgG4-Related Lung Disease in a Patient with Chronic Granulomatous Disease: A Case Report. Open
The overlap between inborn errors of immunity and IgG4RD is not common. Further studies to investigate IgG subsets among IEI patients can help elucidate clinicopathological correlations between these two immune-mediated disorders.
View article: A Case of Chronic Granulomatous Disease in Iran with a Novel Eros (Cybc1) Mutation and an Unusual Dhr Pattern and Nbt Result
A Case of Chronic Granulomatous Disease in Iran with a Novel Eros (Cybc1) Mutation and an Unusual Dhr Pattern and Nbt Result Open
View article: Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment
Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment Open
Background . Adenosine deaminase deficiency 2 (DADA2) is an autoinflammatory disorder, caused by the CECR1 gene mutation. The major clinical manifestations include recurrent vasculitis, neurological disorders such as stroke, hematologic ab…
View article: Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome
Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome Open
Background STAT3 hyperimmunoglobulin E syndrome (STAT3-HIES) also referred to as autosomal dominant HIES (AD-HIES) is an inborn error of immunity characterized by the classic triad of eczema, frequent opportunistic infections, and elevated…
View article: The Radiological Manifestations of Phagocytic Primary Immunodeficiencies in Children
The Radiological Manifestations of Phagocytic Primary Immunodeficiencies in Children Open
Primary immunodeficiencies are a diverse group of rare genetic disorders, among which phagocytic dysfunction impairs neutrophil function in a wide range of inherited disorders. Due to the heterogeneity of the disorders, a multidisciplinary…
View article: Immunodeficiency due to a novel variant in PIK3CD: a case report
Immunodeficiency due to a novel variant in PIK3CD: a case report Open
View article: Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency Open
Germline hemizygous loss-of-function mutations affecting the actin regulator DOCK11 were shown to cause a previously unknown inborn error of hematopoiesis and immunity characterized by severe immune dysregulation and systemic inflammation,…
View article: Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report
Systemic aspergillosis in a patient with interferon gamma receptor 1 deficiency; a case report Open
Background Interferon-gamma receptor deficiency is a heterogeneous spectrum of disease which involves mutations in IFNGR1 , IFNGR2 genes, and the downstream signaling proteins such as STAT1. These mutations are associated with immunodefici…
View article: Demographic, Clinical, and Immunological features in Combined Immunodeficiency Patients with Pulmonary Complications: A Retrospective Multicenter Study from Iran
Demographic, Clinical, and Immunological features in Combined Immunodeficiency Patients with Pulmonary Complications: A Retrospective Multicenter Study from Iran Open
Background: Combined immunodeficiency (CID) is characterized by profound defects in the development and function of both B and T cells. We aimed to investigate clinical and immunological phenotype in CID patients with and without pulmonary…
View article: JAGN1 mutation with distinct clinical features; two case reports and literature review
JAGN1 mutation with distinct clinical features; two case reports and literature review Open
Jagunal homolog 1 (JAGN1) has been recognized as an essential protein in neutrophil function. The mutated JAGN1 is responsible for immunodeficiency related to innate and humoral defense mechanisms. This deficiency impairs neutrophil develo…
View article: Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity
Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity Open
Cutaneous manifestations are one of the most common presentations among patients with inborn errors of immunity (IEI). These skin manifestations are often among the first presenting features in the majority of patients preceding the IEI di…
View article: Clinical, immunological, and genetic findings in Iranian patients with MHC-II deficiency: confirmation of c.121delG RFXANK founder mutation in the Iranian population
Clinical, immunological, and genetic findings in Iranian patients with MHC-II deficiency: confirmation of c.121delG RFXANK founder mutation in the Iranian population Open
Purpose: Major histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immunity (IEI). Impaired antigen presentation to CD4+ T-cells results in combined immunodeficiency. Patients typically present with severe res…
View article: Ecthyma Gangrenosum in Three Unrelated Patients with Combined Immunodeficiency
Ecthyma Gangrenosum in Three Unrelated Patients with Combined Immunodeficiency Open
Background: Ecthyma Gangrenosum (EG) is a necrotizing vasculitis characterized by cutaneous manifestation ranging from a nodule or papule to necrotic ulceration with surrounding erythema, especially with black eschar or central crust. The …
View article: Heterologous inactivated virus/mRNA vaccination response to BF.7, BQ.1.1, and XBB.1
Heterologous inactivated virus/mRNA vaccination response to BF.7, BQ.1.1, and XBB.1 Open