NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

scientific article published on 23 June 2016

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation. is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1039001380
P356DOI10.1007/S10875-016-0306-1
P932PMC publication ID4940442
P698PubMed publication ID27338827

P50authorElisabeth Förster-WaldlQ54508720
P2093author name stringKaan Boztug
Leo Kager
Tatjana Hirschmugl
Wolfgang Holter
Winfried Pickl
Heidrun Boztug
Karoly Lakatos
Doris Trapin
P2860cites workEarly-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.Q50852671
CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM SyndromeQ55670500
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiencyQ21131164
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)Q24290325
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damageQ24603171
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signalingQ28204249
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4Q28247732
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutationsQ28250000
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiencyQ28300499
Regulation and function of NF-kappaB transcription factors in the immune systemQ29616427
Crosstalk in NF-κB signaling pathwaysQ29617418
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.Q33947934
Nuclear factor-kappaB1: regulation and functionQ34005685
A human immunodeficiency caused by mutations in the PIK3R1 geneQ34129000
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiencyQ34380652
Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspectsQ34452123
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3KQ34452767
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.Q34677647
Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100.Q35062895
NF-κB in immunobiology.Q35348282
The phenotype of human STK4 deficiencyQ35885278
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.Q36045102
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.Q36862306
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.Q37293824
A single NFκB system for both canonical and non-canonical signalingQ37811890
NF-κB pathways in hematological malignanciesQ38178074
Identification of genes for childhood heritable diseasesQ38178295
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.Q40237020
Deficiency of innate and acquired immunity caused by an IKBKB mutation.Q42247188
Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.Q42847864
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue6
P921main subjectNF-κBQ411114
haploinsufficiencyQ852654
P304page(s)533-540
P577publication date2016-06-23
P1433published inJournal of Clinical ImmunologyQ6294961
P1476titleNF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation
P478volume36

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cites work (P2860)
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