☆ 4.5 Review

Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations

FRONTIERS IN PEDIATRICS (2022)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Article Allergy

Future of Therapy for Inborn Errors of Immunity

Elena Perez

Summary: Over the past 20 years, the rapid development in the diagnosis and treatment of primary immunodeficiencies (PI) has led to a widespread use of inborn errors of immunity (IEI) as a term to describe these disorders. The advancements in diagnostic techniques and treatments have brought hope to patients with immune deficiencies, expanding the treatment options beyond infection control to include gene therapy and cellular therapy. These improvements have fostered global collaborations and increased the involvement of immunologists in researching rare diseases.

CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2022)

添加到收藏夹

Review Pediatrics

The pediatric common variable immunodeficiency-from genetics to therapy: a review

Aleksandra Szczawinska-Poplonyk et al.

Summary: CVID is a prevalent antibody deficiency with genetic, immunological, and clinical heterogeneity. The challenging diagnosis of pediatric CVID, along with a lack of experimental and clinical studies, may lead to delayed treatment. Increasing awareness among pediatricians is crucial to improve the prognosis and survival of pediatric CVID patients.

EUROPEAN JOURNAL OF PEDIATRICS (2022)

添加到收藏夹

Article Allergy

Inherited defects in the complement system

Lucia Leonardi et al.

Summary: The complement system is crucial for immune responses, and dysregulation can lead to infections and autoimmune diseases. Inherited complement deficiencies, although rare, are severe and often occur in childhood.

PEDIATRIC ALLERGY AND IMMUNOLOGY (2022)

添加到收藏夹

Article Allergy

Defects of the Innate Immune System and Related Immune Deficiencies

Nicole Akar-Ghibril

Summary: The innate immune system relies on Toll-like receptors to recognize pathogens, and includes key cells like phagocytes and natural killer cells. Defects in the innate immune system can lead to increased susceptibility to infections.

CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2022)

添加到收藏夹

Review Immunology

The type I interferonopathies: 10 years on

Yanick J. Crow et al.

Summary: The term 'type I interferonopathy' was coined 10 years ago to describe rare genetic diseases caused by aberrant upregulation of type I interferon signaling. Viral nucleic acid detection is crucial for effective immune response, but failure in self versus non-self discrimination can lead to Mendelian inborn errors of immunity characterized by upregulation of type I interferon signaling.

NATURE REVIEWS IMMUNOLOGY (2022)

添加到收藏夹

Review Endocrinology & Metabolism

Genetics of primary congenital hypothyroidism-a review

Eirini Kostopoulou et al.

Summary: The review highlights the genetic causes of congenital primary hypothyroidism, revealing mutations in five genes predominantly implicated in thyroid dysgenesis and mutations in seven genes in thyroid dyshormonogenesis. These genes play a crucial role in regulating thyroid differentiation and iodine homeostasis, providing insights for genetic counseling and management of affected families.

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM (2021)

添加到收藏夹

Review Pediatrics

New primary immunodeficiencies 2021 context and future

Yesim Demirdag et al.

Summary: The International Union of Immunologic Societies (IUIS) IEI committee has updated the classification of IEIs since 2017, with 88 new gene defects and 75 new immune disorders. Increased utilization of genetic testing and strategic evaluation of genetic variants have not only identified novel IEI disorders, but also additional genetic causes for known IEI disorders. Investigation during the COVID-19 pandemic suggests that defects in Type I interferon signalling may underlie more severe disease.

CURRENT OPINION IN PEDIATRICS (2021)

添加到收藏夹

Article Genetics & Heredity

Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis

V Thadchanamoorthy et al.

Summary: Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive hyper-inflammatory syndrome that requires early accurate diagnosis and appropriate treatment to prevent complications and early mortality. However, both early diagnosis and treatment may not alter the long term prognosis, making genetic counseling a better option in the absence of family history.

BMC MEDICAL GENOMICS (2021)

添加到收藏夹

Article Immunology

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Stuart G. Tangye et al.

Summary: The latest classification of inborn errors of immunity/primary immunodeficiencies by the International Union of Immunological Societies Expert Committee, published in January 2020, quickly became outdated due to the rapid pace of genetic variant discoveries in the field. To bridge the gap until the next official report in 2022, researchers have highlighted 26 additional monogenic gene defects as novel causes of immune defects.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

添加到收藏夹

Editorial Material Pediatrics

Neonatal Erythroderma as an Early Sign of Primary Immunodeficiency

Ludovica Betti et al.

JOURNAL OF PEDIATRICS (2021)

添加到收藏夹

Article Allergy

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Marie-Louise Fremond et al.

Summary: SAVI is a type I interferonopathy caused by gain-of-function mutations in the STING1 gene, characterized by systemic inflammation, skin vasculopathy, and ILD. Patients usually present with early symptoms, and the severity of ILD varies. Tissue loss and T-cell defects are common features.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2021)

添加到收藏夹

Review Immunology

Inborn Errors of Immunity in the Premature Infant: Challenges in Recognition and Diagnosis

Scott M. Gordon et al.

Summary: This review discusses the challenges of diagnosing inborn errors of immunity (IEI) in premature infants and how common disorders of prematurity can clinically overlap with IEI symptoms. Four recent cases are presented to highlight the diagnostic dilemmas facing neonatologists and clinical immunologists when considering IEI in preterm infants. Additionally, a conceptual framework and initial workup guide for premature infants suspected of having IEI are provided.

FRONTIERS IN IMMUNOLOGY (2021)

添加到收藏夹

Review Immunology

A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity

Sandro Felix Perazzio et al.

Summary: Inborn errors of immunity (IEI) encompass a diverse array of monogenic diseases, which not only increase susceptibility to infections but also manifest as autoimmune disorders, severe allergies, and lymphoproliferative diseases. While individually rare, the overall prevalence of these diseases is significant. Early diagnosis is crucial for therapy and genetic counseling, but standardization and quality control of laboratory tests for IEI remain challenging.

FRONTIERS IN IMMUNOLOGY (2021)

添加到收藏夹

Article Allergy

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Julian Thalhammer et al.

Summary: A study analyzed the age-related initial presenting manifestations of IEI in different disease cohorts, finding that the majority of patients initially presented with infections, while some had immune dysregulation or a combination of both. Males predominated before the age of 10, shifting to females after the age of 40. Infections were most prevalent as a first manifestation in patients over the age of 30.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2021)

添加到收藏夹

Review Pediatrics

Type I Interferonopathies in Children: An Overview

Debora M. D'Angelo et al.

Summary: Interferonopathies are a group of inherited autoinflammatory diseases characterized by dysregulation of the interferon pathway, presenting clinically heterogeneous and unique features. Despite being rare, awareness of these diseases poses a challenge for pediatricians. Molecular pathogenesis studies of interferonopathies are driving advancements in the treatment of other immune dysregulation diseases.

FRONTIERS IN PEDIATRICS (2021)

添加到收藏夹

Article

Aproximación diagnóstica ultrasonográfica prenatal al síndrome de Omenn: reporte de caso

Santiago Aristizábal-Ortiz et al.

Revista Colombiana de Obstetricia y Ginecologia (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology

Microbial exposure during early human development primes fetal immune cells

Archita Mishra et al.

Summary: During the 2nd trimester of gestation, microbial signals were detected in fetal gut, skin, placenta, and lungs, contributing to fetal immune-priming. Live bacterial strains, including Staphylococcus and Lactobacillus, were identified in fetal tissues, activating memory T cells in the fetal mesenteric lymph node.

CELL (2021)

添加到收藏夹

Article Immunology

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

Tom Le Voyer et al.

Summary: Autosomal recessive STAT1 deficiency is a severe genetic immune disorder that predisposes patients to viral and mycobacterial infections. Patients often suffer from mycobacterial diseases and severe viral episodes, with a higher mortality rate in those with complete STAT1 deficiency. Differentiation between complete and partial forms of AR STAT1 deficiency is crucial for clinical management and outcome.

JOURNAL OF IMMUNOLOGY (2021)

添加到收藏夹

Review Rheumatology

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases

Ivona Aksentijevich et al.

Summary: Monogenic autoinflammatory diseases are rheumatologic disorders caused by dysregulation in the innate immune system, with molecular mechanisms related to defects in various inflammatory signalling pathways. Disease presentation can vary due to genetic differences, and the phenotype may be more deleterious in specific cell types.

NATURE REVIEWS RHEUMATOLOGY (2021)

添加到收藏夹

Review Pediatrics

Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature

Kyoko Yokoi et al.

Summary: CAPS is an autoinflammatory disease caused by a mutation in the NLRP3 gene, leading to overproduction of IL-1 beta. CINCA/NOMID syndrome, the most severe form of CAPS, can manifest in infants with involvement of the placenta and umbilical cord. A preterm case of CINCA/NOMID syndrome was presented with evidence of intrauterine-onset inflammation confirmed through fetal and placental histopathological examination.

PEDIATRIC RHEUMATOLOGY (2021)

添加到收藏夹

Review Medicine, General & Internal

Familial hemophagocytic lymphohistiocytosis in a neonate Case report and literature review

Yue Yang et al.

Summary: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare but potentially fatal disease, with timely diagnosis being a challenge. This case report of FHL type 3 presenting in the early neonatal period highlights thrombocytopenia as a possible early sign, emphasizing the importance of genetic testing and prompt diagnosis confirmation.

MEDICINE (2021)

添加到收藏夹

Review Immunology

Innate immunity at the crossroads of healthy brain maturation and neurodevelopmental disorders

Kristine E. Zengeler et al.

Summary: The immune and nervous systems have unique developmental trajectories and often coordinate to achieve proper growth and maturation of an organism. The essential roles of innate immune cells and signaling molecules in healthy neurodevelopment, as well as the dysfunction in innate immune signaling pathways linked to neurodevelopmental disorders, are discussed in this review.

NATURE REVIEWS IMMUNOLOGY (2021)

添加到收藏夹

Review Hematology

Pediatric hemophagocytic lymphohistiocytosis

Scott W. Canna et al.

BLOOD (2020)

添加到收藏夹

Article Immunology

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Aziz Bousfiha et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

添加到收藏夹

Article Medicine, Research & Experimental

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Adriana A. de Jesus et al.

JOURNAL OF CLINICAL INVESTIGATION (2020)

添加到收藏夹

Article Immunology

The human fetal thymus generates invariant effector γδ T cells

Paola Tieppo et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2020)

添加到收藏夹

Letter Immunology

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)

Vahid Ziaee et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

添加到收藏夹

Review Immunology

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review

Jae Hyon Park et al.

AUTOIMMUNITY REVIEWS (2020)

添加到收藏夹

Review Biochemistry & Molecular Biology

Association of Polymorphisms ofMASP1/3,COLEC10, andCOLEC11Genes with 3MC Syndrome

Gabriela Gajek et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

添加到收藏夹

Review Allergy

Primary immune regulatory disorders: a growing universe of immune dysregulation

Alice Y. Chan et al.

CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY (2020)

添加到收藏夹

Article Biochemistry & Molecular Biology

Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells

Cristina Bertulli et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

添加到收藏夹

Article Genetics & Heredity

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Carolina Uggenti et al.

NATURE GENETICS (2020)

添加到收藏夹

Review Pediatrics

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Systematic Review of Case Reports

YunFan Dai et al.

FRONTIERS IN PEDIATRICS (2020)

添加到收藏夹

Review Pediatrics

Intrauterine IPEX

Magda Carneiro-Sampaio et al.

FRONTIERS IN PEDIATRICS (2020)

添加到收藏夹

Article Allergy

Lessons learned from the study of human inborn errors of innate immunity

Giorgia Bucciol et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2019)

添加到收藏夹

Article Immunology

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Zinan Zhang et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2019)

添加到收藏夹

Article Immunology

A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation

Isabel Z. Fernandez et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2019)

添加到收藏夹

Article Genetics & Heredity

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Peer Arts et al.

GENOME MEDICINE (2019)

添加到收藏夹

Review Immunology

Regulatory T Cells: the Many Faces of Foxp3

Peter Georgiev et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2019)

添加到收藏夹

Article Immunology

Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population

S. S. Meshaal et al.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2019)

添加到收藏夹

Review Anatomy & Morphology

Developmental roles of microglia: A window into mechanisms of disease

Sarah R. Anderson et al.

DEVELOPMENTAL DYNAMICS (2019)

添加到收藏夹

Review Immunology

Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome

Kathleen E. Sullivan

IMMUNOLOGICAL REVIEWS (2019)

添加到收藏夹

Article Oncology

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes

Neelam Giri et al.

PEDIATRIC BLOOD & CANCER (2018)

添加到收藏夹

Article Immunology

Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes

Vicki Modell et al.

IMMUNOLOGIC RESEARCH (2018)

添加到收藏夹

Article Pharmacology & Pharmacy

Advances in genetic and molecular understanding of Omenn syndrome - implications for the future

Andrew R. Gennery

EXPERT OPINION ON ORPHAN DRUGS (2018)

添加到收藏夹

Article Oncology

Is an infectious trigger always required for primary hemophagocytic lymphohistiocytosis? Lessons from in utero and neonatal disease

Maximilian Heeg et al.

PEDIATRIC BLOOD & CANCER (2018)

添加到收藏夹

Article Immunology

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Eleonora Gambineri et al.

FRONTIERS IN IMMUNOLOGY (2018)

添加到收藏夹

Article Dermatology

Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn

Rabia Zafar et al.

PEDIATRIC DERMATOLOGY (2017)

添加到收藏夹

Article Genetics & Heredity

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Ashleigh R. Pavey et al.

GENETICS IN MEDICINE (2017)

添加到收藏夹

Editorial Material Immunology

Inducing fetal tolerance

Laurie A. Dempsey

NATURE IMMUNOLOGY (2017)

添加到收藏夹

Review Immunology

Survival of the fetus: fetal B and T cell receptor repertoire development

Erez Rechavi et al.

SEMINARS IN IMMUNOPATHOLOGY (2017)

添加到收藏夹

Article Genetics & Heredity

COLEC10 is mutated in 3MC patients and regulates early craniofacial development

Mustafa M. Munye et al.

PLOS GENETICS (2017)

添加到收藏夹

Article Immunology

Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

Roxane Labrosse et al.

FRONTIERS IN IMMUNOLOGY (2017)

添加到收藏夹

Review Genetics & Heredity

Immunodeficiency in CHARGE syndrome

Sam Mehr et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2017)

添加到收藏夹

Article Multidisciplinary Sciences

Human fetal dendritic cells promote prenatal T-cell immune suppression through arginase-2

Naomi McGovern et al.

NATURE (2017)

添加到收藏夹

Article Immunology

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TOR CH syndrome

Marije E. C. Meuwissen et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2016)

添加到收藏夹

Article Allergy

The Immune Phenotype of Patients with CHARGE Syndrome

Peter Hsu et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2016)

添加到收藏夹

Article Genetics & Heredity

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Yanick J. Crow et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

添加到收藏夹

Article Immunology

Fetal-onset IPEX: Report of two families and review of literature

Mariana Moraes Xavier-da-Silva et al.

CLINICAL IMMUNOLOGY (2015)

添加到收藏夹

Review Immunology

EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG/NEMO Mutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation

Francesca Fusco et al.

INTERNATIONAL REVIEWS OF IMMUNOLOGY (2015)

添加到收藏夹

Article Medicine, General & Internal

Severe combined immunodeficiencies and related disorders

Alain Fischer et al.

NATURE REVIEWS DISEASE PRIMERS (2015)

添加到收藏夹

Review Immunology

Aicardi-Goutieres syndrome and the type I interferonopathies

Yanick J. Crow et al.

NATURE REVIEWS IMMUNOLOGY (2015)

添加到收藏夹

Article Immunology

Follicular bronchiolitis as phenotype associated with CD25 deficiency

L. Bezrodnik et al.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2014)

添加到收藏夹

Article Immunology

Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias

Claudia Augusta Zago et al.

HUMAN IMMUNOLOGY (2014)

添加到收藏夹

Article Immunology

Primary Immunodeficiency Diseases in Different Age Groups: A Report on 1,008 Cases from a Single Brazilian Reference Center

Magda Carneiro-Sampaio et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2013)

添加到收藏夹

Article Oncology

Association of Nonimmune Hydrops Fetalis With Familial Hemophagocytic Lymphohistiocytosis in Identical Twin Neonates With Perforin His222Arg (c665A>G) Mutation

Gunay Balta et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2013)

添加到收藏夹

Article Immunology

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

Ender Altiok et al.

CLINICAL IMMUNOLOGY (2012)

添加到收藏夹

Article Allergy

International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency

Teresa Caballero et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)

添加到收藏夹

Review Immunology

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a paradigm of immunodeficiency with autoimmunity

Federica Barzaghi et al.

FRONTIERS IN IMMUNOLOGY (2012)

添加到收藏夹

Article Immunology

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency

Kerstin Felgentreff et al.

CLINICAL IMMUNOLOGY (2011)

添加到收藏夹

Article Genetics & Heredity

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Caroline Rooryck et al.

NATURE GENETICS (2011)

添加到收藏夹

Letter Allergy

A proposal of warning signs for primary immunodeficiencies in the first year of life

Magda Carneiro-Sampaio et al.

PEDIATRIC ALLERGY AND IMMUNOLOGY (2011)

添加到收藏夹

Article Pediatrics

Hemophagocytic Lymphohistiocytosis With Munc13-4 Mutation: A Cause of Recurrent Fatal Hydrops Fetalis

Elie Bechara et al.

PEDIATRICS (2011)

添加到收藏夹

Article Biotechnology & Applied Microbiology

Clinical manifestations of hyper IgE syndromes

Alexandra F. Freeman et al.

DISEASE MARKERS (2010)

添加到收藏夹

Editorial Material Obstetrics & Gynecology

Familial hemophagocytic lymphohistiocytosis

T. E. Herman et al.

JOURNAL OF PERINATOLOGY (2010)

添加到收藏夹

Article Medicine, General & Internal

Brief Report: Mutant CHUK and Severe Fetal Encasement Malformation.

Jenni Lahtela et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

添加到收藏夹

Article Multidisciplinary Sciences

Fetal and Adult Hematopoietic Stem Cells Give Rise to Distinct T Cell Lineages in Humans

Jeff E. Mold et al.

SCIENCE (2010)

添加到收藏夹

Article Pediatrics

Characteristics of Hemophagocytic Lymphohistiocytosis in Neonates: A Nationwide Survey in Japan

Nobuhiro Suzuki et al.

JOURNAL OF PEDIATRICS (2009)

添加到收藏夹

Letter Acoustics

In-utero pericardiocentesis to treat fetal hydrops caused by X-linked chronic granulomatous disease

G. D. Michailidis et al.

ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2006)

添加到收藏夹

Article Pathology

Fulminant neonatal liver failure in siblings: Probable congenital hemophagocytic lymphohistiocytosis

Joan Stapp et al.

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2006)

添加到收藏夹

Review Allergy

The Wiskott-Aldrich syndrome

HD Ochs et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2006)

添加到收藏夹

Article Dermatology

Dermatitis and the newborn rash of hyper-IgE syndrome

CLD Eberting et al.

ARCHIVES OF DERMATOLOGY (2004)

添加到收藏夹

Article Hematology

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

A Villa et al.

BLOOD (2001)

添加到收藏夹

Article Pediatrics

A preterm baby with Omenn syndrome

N Aladangady et al.

EUROPEAN JOURNAL OF PEDIATRICS (2000)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.