Primary atopic disorders

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

(2017) Chiara Bacchelli et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry

(2017) Ryan J. Carlson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

(2017) Taco W. Kuijpers et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

(2017) Kate L. Del Bel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dedicator of cytokinesis 8–deficient CD4 + T cells are biased to a T H 2 effector fate at the expense of T H 1 and T H 17 cells

(2017) Stuart G. Tangye et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome

(2017) Manish Arora et al.   JOURNAL OF CLINICAL IMMUNOLOGY

DOCK8 Deficiency Presenting as an IPEX-Like Disorder

(2017) Fayhan J. Alroqi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans

(2017) J.J. Lyons et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation inARPC1B

(2017) Raz Somech et al.   JOURNAL OF IMMUNOLOGY

A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients

(2017) Leila Ben-Khemis et al.   MOLECULAR IMMUNOLOGY

Germline hypomorphic CARD11 mutations in severe atopic disease

(2017) Chi A Ma et al.   NATURE GENETICS

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

(2017) Walter H. A. Kahr et al.   Nature Communications

A human immunodeficiency syndrome caused by mutations in CARMIL2

(2017) T. Schober et al.   Nature Communications

Chronic Idiopathic Urticaria: Systemic Complaints and Their Relationship with Disease and Immune Measures

(2017) Judy C. Doong et al.   Journal of Allergy and Clinical Immunology-In Practice

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea

(2016) Chi A. Ma et al.   BLOOD

Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts

(2016) Peter Valent et al.   BLOOD

Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis

(2016) Valerie Hox et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

TGF-β1–induced PAI-1 contributes to a profibrotic network in patients with eosinophilic esophagitis

(2016) Renee Rawson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

B-cell–specific STAT3 deficiency: Insight into the molecular basis of autosomal-dominant hyper-IgE syndrome

(2016) Alisa Kane et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Neonatal-onset T − B − NK + severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3

(2016) Jens Magnus Bernth-Jensen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy

(2016) Willem S. Lexmond et al.   JOURNAL OF CLINICAL INVESTIGATION

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton

(2016) Erin Janssen et al.   JOURNAL OF CLINICAL INVESTIGATION

Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT

(2016) Baerbel Keller et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells

(2016) Romain Roncagalli et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Dual T cell– and B cell–intrinsic deficiency in humans with biallelicRLTPRmutations

(2016) Yi Wang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STAT3 Impairs STAT5 Activation in the Development of IL-9–Secreting T Cells

(2016) Matthew R. Olson et al.   JOURNAL OF IMMUNOLOGY

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

(2016) Jonathan J Lyons et al.   NATURE GENETICS

Vibratory Urticaria Associated with a Missense Variant in ADGRE2

(2016) Steven E. Boyden et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis

(2016) Hengning Ke et al.   Cell and Bioscience

Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation

(2015) Gang Wu et al.   GLYCOCONJUGATE JOURNAL

Regulatory T Cell Reprogramming toward a Th2-Cell-like Lineage Impairs Oral Tolerance and Promotes Food Allergy

(2015) Magali Noval Rivas et al.   IMMUNITY

Food allergy in patients with primary immunodeficiency diseases: Prevalence within the US Immunodeficiency Network (USIDNET)

(2015) Karen S. Tuano et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

(2015) Maeve A. McAleer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

(2015) Cindy S. Ma et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

(2015) Divya Punwani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

(2015) Alexandra Y. Kreins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Activating mutations of STAT5B and STAT3 in lymphomas derived from γδ-T or NK cells

(2015) Can Küçük et al.   Nature Communications

Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated WithPLCG2Mutations

(2015) Oyinade M. Aderibigbe et al.   JAMA Dermatology

Hypothetical Atopic Dermatitis-Myeloproliferative Neoplasm Syndrome

(2015) Toshiaki Kawakami et al.   Frontiers in Immunology

Clinical characteristics and risk profile of patients with elevated baseline serum tryptase

(2014) C. Fellinger et al.   ALLERGOLOGIA ET IMMUNOPATHOLOGIA

Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern

(2014) A. C. Boos et al.   ALLERGY

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

(2014) Asbjørg Stray-Pedersen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

(2014) J. D. Milner et al.   BLOOD

The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse

(2014) O. R. Bandapalli et al.   HAEMATOLOGICA

Inflammatory T Cell Responses Rely on Amino Acid Transporter ASCT2 Facilitation of Glutamine Uptake and mTORC1 Kinase Activation

(2014) Mako Nakaya et al.   IMMUNITY

T-Cell-Receptor-Dependent Signal Intensity Dominantly Controls CD4+ T Cell Polarization In Vivo

(2014) Nicholas van Panhuys et al.   IMMUNITY

Dedicator of cytokinesis 8–deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells

(2014) Erin Janssen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

(2014) Xiaomin Yu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Emollient enhancement of the skin barrier from birth offers effective atopic dermatitis prevention

(2014) Eric L. Simpson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mitochondrial STAT3 plays a major role in IgE-antigen–mediated mast cell exocytosis

(2014) Tal Hadad Erlich et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

(2014) Atfa Sassi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities

(2014) Jonathan J. Lyons et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

(2014) Juan Manuel Torres et al.   JOURNAL OF CLINICAL INVESTIGATION

mTOR inhibition rescues osteopenia in mice with systemic sclerosis

(2014) Chider Chen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity

(2014) Qian Zhang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DOCK5 functions as a key signaling adaptor that links FcεRI signals to microtubule dynamics during mast cell degranulation

(2014) Kana Ogawa et al.   JOURNAL OF EXPERIMENTAL MEDICINE

T Cell Receptor-Dependent Activation of mTOR Signaling in T Cells Is Mediated by Carma1 and MALT1, But Not Bcl10

(2014) K. S. Hamilton et al.   Science Signaling

Critical Role for Mast Cell Stat5 Activity in Skin Inflammation

(2014) Tomoaki Ando et al.   Cell Reports

The Genetic Basis of Aortic Aneurysm

(2014) M. E. Lindsay et al.   Cold Spring Harbor Perspectives in Medicine

Serum basal tryptase may be a good marker for predicting the risk of anaphylaxis in children with food allergy

(2013) U. M. Sahiner et al.   ALLERGY

Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia

(2013) H. L. M. Rajala et al.   BLOOD

Early signaling events that underlie fate decisions of naive CD4+T cells toward distinct T-helper cell subsets

(2013) Hidehiro Yamane et al.   IMMUNOLOGICAL REVIEWS

High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders

(2013) J. Pablo Abonia et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

(2013) Gulbu Uzel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

(2013) Johann Greil et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

(2013) Polina Stepensky et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

(2013) Haifa H. Jabara et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation

(2013) Andrea M. Siegel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Elevated IgE and atopy in patients treated for early-onset ADA-SCID

(2013) Monica G. Lawrence et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Combined immunodeficiency associated with homozygous MALT1 mutations

(2013) Margaret L. McKinnon et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience

(2013) William T. Shearer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells

(2013) Elissa K. Deenick et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

(2013) Liat Samuelov et al.   NATURE GENETICS

The lymphoid lineage–specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

(2013) Yinming Liang et al.   NATURE IMMUNOLOGY

Peptide library-based evaluation of T-cell receptor breadth detects defects in global and regulatory activation in human immunologic diseases

(2013) J. S. Barber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TGF  Receptor Mutations Impose a Strong Predisposition for Human Allergic Disease

(2013) P. A. Frischmeyer-Guerrerio et al.   Science Translational Medicine

Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes

(2012) Barry J. Mark et al.   ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY

Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy

(2012) Daniel Kotlarz et al.   GASTROENTEROLOGY

Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency

(2012) Sanja Kezic et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

(2012) Gaetana Lanzi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Activation of Myeloid Cell-Specific Adhesion Class G Protein-Coupled Receptor EMR2 via Ligation-Induced Translocation and Interaction of Receptor Subunits in Lipid Raft Microdomains

(2012) Y.-S. Huang et al.   MOLECULAR AND CELLULAR BIOLOGY

Extrathymically generated regulatory T cells control mucosal TH2 inflammation

(2012) Steven Z. Josefowicz et al.   NATURE

Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population

(2012) Tomomitsu Hirota et al.   NATURE GENETICS

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

(2012) Michael J. Ombrello et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

(2012) Amandine Crequer et al.   PLoS One

The STAT5b Pathway Defect and Autoimmunity

(2012) Takahiro Kanai et al.   Frontiers in Immunology

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening

(2011) Majed Dasouki et al.   CLINICAL IMMUNOLOGY

Increased risk of asthma and atopic dermatitis in perinatally HIV-infected children and adolescents

(2011) George K. Siberry et al.   CLINICAL IMMUNOLOGY

A Requisite Role for Induced Regulatory T Cells in Tolerance Based on Expanding Antigen Receptor Diversity

(2011) Dipica Haribhai et al.   IMMUNITY

Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination

(2011) Duane R. Wesemann et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STAT5b Deficiency: An Unsuspected Cause of Growth Failure, Immunodeficiency, and Severe Pulmonary Disease

(2011) Kari Nadeau et al.   JOURNAL OF PEDIATRICS

The kinase mTOR regulates the differentiation of helper T cells through the selective activation of signaling by mTORC1 and mTORC2

(2011) Greg M Delgoffe et al.   NATURE IMMUNOLOGY

Opposing regulation of the locus encoding IL-17 through direct, reciprocal actions of STAT3 and STAT5

(2011) Xiang-Ping Yang et al.   NATURE IMMUNOLOGY

Filaggrin Mutations Associated with Skin and Allergic Diseases

(2011) Alan D. Irvine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Stratum corneum lipids, skin barrier function and filaggrin mutations in patients with atopic eczema

(2010) J. M. Jungersted et al.   ALLERGY

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

(2010) Vinzenz Oji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Factors influencing serum total tryptase concentrations in a general adult population

(2010) Arturo Gonzalez-Quintela et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Mast cells in allergy and infection: Versatile effector and regulatory cells in innate and adaptive immunity

(2010) Stephen J. Galli et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus

(2010) Helen Miajlovic et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Cutting Edge: Lack of High Affinity Competition for Peptide in Polyclonal CD4+ Responses Unmasks IL-4 Production

(2010) J. D. Milner et al.   JOURNAL OF IMMUNOLOGY

IL-25 in Atopic Dermatitis: A Possible Link between Inflammation and Skin Barrier Dysfunction?

(2010) Malene Hvid et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

Hypomorphic mutation ofZAP70in human results in a late onset immunodeficiency and no autoimmunity

(2009) Capucine Picard et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Loss of the LAT Adaptor Converts Antigen-Responsive T Cells into Pathogenic Effectors that Function Independently of the T Cell Receptor

(2009) Michael Mingueneau et al.   IMMUNITY

Familial atypical cold urticaria: Description of a new hereditary disease

(2009) Chhavi Gandhi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Filaggrin in the frontline: role in skin barrier function and disease

(2009) A. Sandilands et al.   JOURNAL OF CELL SCIENCE

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

(2008) Tuba Turul et al.   EUROPEAN JOURNAL OF PEDIATRICS

Mutations of the Wiskott–Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes

(2008) Hans D. Ochs   IMMUNOLOGIC RESEARCH

Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

(2008) Anna Villa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

In vivo switch to IL-10–secreting T regulatory cells in high dose allergen exposure

(2008) Flurina Meiler et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Novel mouse mutants with primary cellular immunodeficiencies generated by genome-wide mutagenesis

(2007) Thilo Jakob et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY