(Q38124223)

29 August 2017

title

The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases (English)

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29 August 2017

Joshua D Milner

1

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29 August 2017

Steven M Holland

series ordinal

2

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29 August 2017

publication date

26 July 2013

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Nature Reviews Immunology

29 August 2017

published in

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29 August 2017

volume

13

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29 August 2017

issue

9

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29 August 2017

page(s)

635-648

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Primary immunodeficiencies: a field in its infancy

29 August 2017

cites work

1 reference

Immunology taught by humans

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Combined immunodeficiency associated with DOCK8 mutations

31 March 2020

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Additional diverse findings expand the clinical presentation of DOCK8 deficiency

31 March 2020

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DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

31 March 2020

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Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

31 March 2020

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IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients

31 March 2020

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The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

31 March 2020

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IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans

31 March 2020

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DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

31 March 2020

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The essential role of DOCK8 in humoral immunity

31 March 2020

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Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

31 March 2020

1 reference

DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses

31 March 2020

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Regulation of T cell survival through coronin-1-mediated generation of inositol-1,4,5-trisphosphate and calcium mobilization after T cell receptor triggering.

31 March 2020

1 reference

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency

31 March 2020

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Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

31 March 2020

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The hippo signaling pathway in development and cancer

31 March 2020

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MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

31 March 2020

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The phenotype of human STK4 deficiency

31 March 2020

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Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

31 March 2020

1 reference

Hippo pathway inhibits Wnt signaling to restrain cardiomyocyte proliferation and heart size

31 March 2020

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The Mst1 and Mst2 kinases control activation of rho family GTPases and thymic egress of mature thymocytes.

31 March 2020

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Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP.

31 March 2020

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Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.

31 March 2020

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Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

31 March 2020

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More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

31 March 2020

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Familial Reticuloendotheliosis with Eosinophilia

31 March 2020

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An immunodeficiency disease with RAG mutations and granulomas

31 March 2020

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Hypomorphic Rag mutations can cause destructive midline granulomatous disease

31 March 2020

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Highly variable clinical phenotypes of hypomorphic RAG1 mutations

31 March 2020

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Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

31 March 2020

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A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

31 March 2020

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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome

31 March 2020

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Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

31 March 2020

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Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome

31 March 2020

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Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease

31 March 2020

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Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency

31 March 2020

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Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

31 March 2020

1 reference

Hypoglycaemia, liver necrosis and perinatal death in mice lacking all isoforms of phosphoinositide 3-kinase p85 alpha

31 March 2020

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Altered T-cell receptor signaling in the pathogenesis of allergic disease

31 March 2020

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Familial atypical cold urticaria: description of a new hereditary disease

31 March 2020

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Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

31 March 2020

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Phospholipase Cgamma2 is essential in the functions of B cell and several Fc receptors

31 March 2020

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Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry

31 March 2020

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A novel N-ethyl-N-nitrosourea-induced mutation in phospholipase Cγ2 causes inflammatory arthritis, metabolic defects, and male infertility in vitro in a murine model

31 March 2020

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Coronary artery abnormalities in Hyper-IgE syndrome

31 March 2020

1 reference

Hypothermia enhances phosphorylation of I{kappa}B kinase and prolongs nuclear localization of NF-{kappa}B in lipopolysaccharide-activated macrophages

31 March 2020

1 reference

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

31 March 2020

1 reference

Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics

31 March 2020

1 reference

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

31 March 2020

1 reference

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

31 March 2020

1 reference

Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis

31 March 2020

1 reference

TLR3 deficiency in patients with herpes simplex encephalitis

31 March 2020

1 reference

Herpes simplex virus encephalitis in human UNC-93B deficiency

31 March 2020

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Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

31 March 2020

1 reference

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

31 March 2020

1 reference

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

31 March 2020

1 reference

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

31 March 2020

1 reference

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

31 March 2020

1 reference

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

31 March 2020

1 reference

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

31 March 2020

1 reference

Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis

31 March 2020

1 reference

The GATA2 transcriptional network is requisite for RAS oncogene-driven non-small cell lung cancer

31 March 2020

1 reference

Overexpression of GATA2 predicts an adverse prognosis for patients with acute myeloid leukemia and it is associated with distinct molecular abnormalities.

31 March 2020

1 reference

Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia

31 March 2020

1 reference

Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity

31 March 2020

1 reference

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

31 March 2020

1 reference

Severe herpesvirus infections in an adolescent without natural killer cells

31 March 2020

1 reference

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

31 March 2020

1 reference

Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

31 March 2020

1 reference

Interferon regulatory factor 8 regulates pathways for antigen presentation in myeloid cells and during tuberculosis

31 March 2020

1 reference

Immunodeficiency and chronic myelogenous leukemia-like syndrome in mice with a targeted mutation of the ICSBP gene

31 March 2020

1 reference

IRF8 mutations and human dendritic-cell immunodeficiency

31 March 2020

1 reference

Th17 cells: a new fate for differentiating helper T cells

31 March 2020

1 reference

Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

31 March 2020

1 reference

Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3

31 March 2020

1 reference

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

31 March 2020

1 reference

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

31 March 2020

1 reference

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

31 March 2020

1 reference

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

31 March 2020

1 reference

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

31 March 2020

1 reference

Human dectin-1 deficiency and mucocutaneous fungal infections

31 March 2020

1 reference

A homozygous CARD9 mutation in a family with susceptibility to fungal infections

31 March 2020

1 reference

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

31 March 2020

1 reference

STAT3 mutations in the hyper-IgE syndrome

31 March 2020

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Reduced memory B cells in patients with hyper IgE syndrome.

31 March 2020

1 reference

B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

31 March 2020

1 reference

Human dendritic cells induce the differentiation of interleukin-21-producing T follicular helper-like cells through interleukin-12.

31 March 2020

1 reference

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

31 March 2020

1 reference

An interleukin-21-interleukin-10-STAT3 pathway is critical for functional maturation of memory CD8+ T cells

31 March 2020

1 reference

A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory

31 March 2020

1 reference

GP130-STAT3 regulates epithelial cell migration and is required for repair of the bronchiolar epithelium

31 March 2020

1 reference

Stat3-dependent acute Rantes production in vascular smooth muscle cells modulates inflammation following arterial injury in mice

31 March 2020

1 reference

Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency.

31 March 2020

1 reference

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

31 March 2020

1 reference

Function of mitochondrial Stat3 in cellular respiration

31 March 2020

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Mitochondrial STAT3 supports Ras-dependent oncogenic transformation.

31 March 2020

1 reference

Mitochondrial respiratory capacity is a critical regulator of CD8+ T cell memory development

31 March 2020

1 reference

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

31 March 2020

1 reference

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

31 March 2020

1 reference

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

31 March 2020

1 reference

STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis

31 March 2020

1 reference

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

31 March 2020

1 reference

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

31 March 2020

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Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival.

31 March 2020

1 reference

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

31 March 2020

1 reference

Negative regulation of cytokine signaling and immune responses by SOCS proteins

31 March 2020

1 reference

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder

31 March 2020

1 reference

Primary Immunodeficiency Diseases

31 March 2020

1 reference

The role of cytokines in the pathogenesis of Cryptosporidium infection

31 March 2020

1 reference

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

31 March 2020

1 reference

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo

31 March 2020

1 reference

Interleukin-21 receptor (IL-21R) is up-regulated by CD40 triggering and mediates proapoptotic signals in chronic lymphocytic leukemia B cells

31 March 2020

1 reference

Interleukin-10-deficient mice develop chronic enterocolitis

31 March 2020

1 reference

Infant colitis—it's in the genes

31 March 2020

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Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

31 March 2020

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Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation

31 March 2020

1 reference

STAT3 links IL-22 signaling in intestinal epithelial cells to mucosal wound healing

31 March 2020

1 reference

The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

31 March 2020

1 reference

Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D

31 March 2020

1 reference

https://pubmed.ncbi.nlm.nih.gov/23887241

31 March 2020

1 reference

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

History of primary immunodeficiency diseases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23887241

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRI3493

1 reference

29 August 2017

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