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Article ; Online: Old vaccines, new diseases: when BCG meets SPPL2a.

Rosenzweig, Sergio D

2018 Volume 19, Issue 9, Page(s) 906–907

MeSH term(s)	Aspartic Acid Endopeptidases ; Histocompatibility Antigens Class II ; Humans ; T-Lymphocytes, Helper-Inducer ; Vaccines
Chemical Substances	Histocompatibility Antigens Class II ; Vaccines ; Aspartic Acid Endopeptidases (EC 3.4.23.-) ; SPPL2a protein, human (EC 3.4.23.-)
Language	English
Publishing date	2018-08-13
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Comment
ZDB-ID	2016987-5
ISSN	1529-2916 ; 1529-2908
ISSN (online)	1529-2916
ISSN	1529-2908
DOI	10.1038/s41590-018-0193-0
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Article ; Online: Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.

Kuehn, Hye Sun / Boast, Brigette / Rosenzweig, Sergio D

Clinical and experimental immunology

2022 Volume 212, Issue 2, Page(s) 129–136

Abstract: IKAROS/IKZF1 plays a pivotal role in lymphocyte differentiation and development. Germline mutations in IKZF1, which have been shown to be associated with primary immunodeficiency, can be classified through four different mechanisms of action depending on ...

Abstract	IKAROS/IKZF1 plays a pivotal role in lymphocyte differentiation and development. Germline mutations in IKZF1, which have been shown to be associated with primary immunodeficiency, can be classified through four different mechanisms of action depending on the protein expression and its functional defects: haploinsufficiency, dimerization defective, dominant negative, and gain of function. These different mechanisms are associated with variable degrees of susceptibility to infectious diseases, autoimmune disorders, allergic diseases, and malignancies. To date, more than 30 heterozygous IKZF1 germline variants have been reported in patients with primary immunodeficiency. Here we review recent discoveries and clinical/immunological characterization of IKAROS-associated diseases that are linked to different mechanisms of action in IKAROS function.
MeSH term(s)	Humans ; Autoimmune Diseases ; Ikaros Transcription Factor/genetics ; Ikaros Transcription Factor/metabolism ; Neoplasms ; Transcription Factors
Chemical Substances	Ikaros Transcription Factor (148971-36-2) ; Transcription Factors
Language	English
Publishing date	2022-11-25
Publishing country	England
Document type	Review ; Journal Article
ZDB-ID	218531-3
ISSN	1365-2249 ; 0009-9104 ; 0964-2536
ISSN (online)	1365-2249
ISSN	0009-9104 ; 0964-2536
DOI	10.1093/cei/uxac109
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Article ; Online: Lymphocyte reference intervals in the era of newborn screening.

Fleisher, Thomas A / Rosenzweig, Sergio D

The Journal of allergy and clinical immunology

2019 Volume 144, Issue 6, Page(s) 1516–1517

MeSH term(s)	Humans ; Infant, Newborn ; Lymphocyte Count ; Lymphocyte Subsets ; Neonatal Screening ; Reference Values
Language	English
Publishing date	2019-10-07
Publishing country	United States
Document type	Editorial ; Research Support, N.I.H., Intramural ; Comment
ZDB-ID	121011-7
ISSN	1097-6825 ; 1085-8725 ; 0091-6749
ISSN (online)	1097-6825 ; 1085-8725
ISSN	0091-6749
DOI	10.1016/j.jaci.2019.09.022
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Article ; Online: News from the CIS Executive Committee.

Rosenzweig, Sergio D

Journal of clinical immunology

2014 Volume 34, Issue 2, Page(s) 129

MeSH term(s)	Humans ; Periodicals as Topic
Language	English
Publishing date	2014-02
Publishing country	Netherlands
Document type	Editorial ; News
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-013-9984-0
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Article ; Online: Germline

Kuehn, Hye Sun / Nunes-Santos, Cristiane J / Rosenzweig, Sergio D

Expert review of clinical immunology

2021 Volume 17, Issue 4, Page(s) 407–416

Abstract: ... ...

Abstract	Introduction
MeSH term(s)	Genetic Association Studies ; Germ Cells ; Germ-Line Mutation ; Humans ; Ikaros Transcription Factor/genetics ; Immunity/genetics ; Phenotype
Chemical Substances	IKZF1 protein, human ; Ikaros Transcription Factor (148971-36-2)
Language	English
Publishing date	2021-03-19
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Review
ZDB-ID	2274260-8
ISSN	1744-8409 ; 1744-666X
ISSN (online)	1744-8409
ISSN	1744-666X
DOI	10.1080/1744666X.2021.1901582
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Article ; Online: IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.

Kuehn, Hye Sun / Nunes-Santos, Cristiane J / Rosenzweig, Sergio D

Journal of clinical immunology

2021 Volume 41, Issue 1, Page(s) 1–10

Abstract: IKAROS, encoded by IKZF1, is a zinc finger transcription factor and a critical regulator of hematopoiesis. Mutations in IKZF1 have been implicated in immune deficiency, autoimmunity, and malignancy in humans. Somatic IKZF1 loss-of-function mutations and ... ...

Abstract	IKAROS, encoded by IKZF1, is a zinc finger transcription factor and a critical regulator of hematopoiesis. Mutations in IKZF1 have been implicated in immune deficiency, autoimmunity, and malignancy in humans. Somatic IKZF1 loss-of-function mutations and deletions have been shown to increase predisposition to the development of B cell acute lymphoblastic leukemia (B-ALL) and associated with poor prognosis. In the last 4 years, germline heterozygous IKZF1 mutations have been reported in primary immune deficiency/inborn errors of immunity. These allelic variants, acting by either haploinsufficiency or dominant negative mechanisms affecting particular functions of IKAROS, are associated with common variable immunodeficiency, combined immunodeficiency, or primarily hematologic phenotypes in affected patients. In this review, we provide an overview of genetic, clinical, and immunological manifestations in patients with IKZF1 mutations, and the molecular and cellular mechanisms that contribute to their disease as a consequence of IKAROS dysfunction.
MeSH term(s)	Alleles ; Diagnosis, Differential ; Genetic Association Studies/methods ; Genetic Diseases, Inborn ; Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; Germ-Line Mutation ; Haploinsufficiency ; Humans ; Ikaros Transcription Factor/genetics ; Ikaros Transcription Factor/metabolism ; Mutation ; Penetrance ; Phenotype ; Primary Immunodeficiency Diseases/diagnosis ; Primary Immunodeficiency Diseases/etiology ; Prognosis ; Protein Binding ; Protein Interaction Domains and Motifs/genetics ; Protein Multimerization
Chemical Substances	Ikaros Transcription Factor (148971-36-2)
Language	English
Publishing date	2021-01-03
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Review
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-020-00936-x
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Article ; Online: An update on gain-of-function mutations in primary immunodeficiency diseases.

Jhamnani, Rekha D / Rosenzweig, Sergio D

Current opinion in allergy and clinical immunology

2017 Volume 17, Issue 6, Page(s) 391–397

Abstract: Purpose of review: Most primary immunodeficiencies described since 1952 were associated with loss-of-function defects. With the advent and popularization of unbiased next-generation sequencing diagnostic approaches followed by functional validation ... ...

Abstract	Purpose of review: Most primary immunodeficiencies described since 1952 were associated with loss-of-function defects. With the advent and popularization of unbiased next-generation sequencing diagnostic approaches followed by functional validation techniques, many gain-of-function mutations leading to immunodeficiency have also been identified. This review highlights the updates on pathophysiology mechanisms and new therapeutic approaches involving primary immunodeficiencies because of gain-of-function mutations. Recent findings: The more recent developments related to gain-of-function primary immunodeficiencies mostly involving increased infection susceptibility but also immune dysregulation and autoimmunity, were reviewed. Updates regarding pathophysiology mechanisms, different mutation types, clinical features, laboratory markers, current and potential new treatments on patients with caspase recruitment domain family member 11, signal transducer and activator of transcription 1, signal transducer and activator of transcription 3, phosphatidylinositol-4,5-biphosphate 3-kinase catalytic 110, phosphatidylinositol-4,5-biphosphate 3-kinase regulatory subunit 1, chemokine C-X-C motif receptor 4, sterile α motif domain containing 9-like, and nuclear factor κ-B subunit 2 gain-of-function mutations are reviewed for each disease. Summary: With the identification of gain-of-function mutations as a cause of immunodeficiency, new genetic pathophysiology mechanisms unveiled and new-targeted therapeutic approaches can be explored as potential rescue treatments for these diseases.
Language	English
Publishing date	2017-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	2088710-3
ISSN	1473-6322 ; 1528-4050
ISSN (online)	1473-6322
ISSN	1528-4050
DOI	10.1097/ACI.0000000000000401
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Article ; Online: IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes.

Klangkalya, Natchanun / Stoddard, Jennifer / Niemela, Julie / Sponaugle, Jennifer / Greenwell, Irl Brian / Reigh, Erin / Kuehn, Hye Sun / Kanakry, Jennifer A / Rosenzweig, Sergio D / Dimitrova, Dimana

Clinical immunology (Orlando, Fla.)

2024 Volume 260, Page(s) 109922

Abstract: IKAROS, encoded by IKZF1, is a tumor suppressor and a key hematopoietic transcription factor responsible for lymphoid and myeloid differentiation. IKZF1 mutations result in inborn errors of immunity presenting with increased susceptibility to infections, ...

Abstract	IKAROS, encoded by IKZF1, is a tumor suppressor and a key hematopoietic transcription factor responsible for lymphoid and myeloid differentiation. IKZF1 mutations result in inborn errors of immunity presenting with increased susceptibility to infections, immune dysregulation, and malignancies. In particular, patients carrying IKZF1 gain-of-function (GOF) mutations mostly exhibit symptoms of immune dysregulation and polyclonal plasma cell proliferation. Herein, we describe seven new IKAROS GOF cases from two unrelated families, presenting with novel infectious, immune dysregulation and hematologic diseases. Two of the patients underwent allogeneic hematopoietic cell transplantation (HCT) due to poorly responsive complications. HCT was well-tolerated achieving full engraftment in both patients receiving reduced intensity, matched unrelated donor grafts, with no severe acute or chronic graft-vs-host-disease, and in remission from their diseases 2.5 and 4 years post-HCT, respectively. These results suggest that HCT is a valid and curative option in patients with IKAROS GOF disease and severe clinical manifestations.
MeSH term(s)	Humans ; Gain of Function Mutation ; Hematologic Diseases ; Hematopoietic Stem Cell Transplantation ; Transplantation Conditioning/methods ; Ikaros Transcription Factor/genetics
Chemical Substances	IKZF1 protein, human ; Ikaros Transcription Factor (148971-36-2)
Language	English
Publishing date	2024-02-05
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	1459903-x
ISSN	1521-7035 ; 1521-6616
ISSN (online)	1521-7035
ISSN	1521-6616
DOI	10.1016/j.clim.2024.109922
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Article ; Online: PI3K pathway defects leading to immunodeficiency and immune dysregulation.

Nunes-Santos, Cristiane J / Uzel, Gulbu / Rosenzweig, Sergio D

The Journal of allergy and clinical immunology

2019 Volume 143, Issue 5, Page(s) 1676–1687

Abstract: The phosphatidylinositol 3-kinase (PI3K) signaling pathway is involved in a broad range of cellular processes, including growth, metabolism, differentiation, proliferation, motility, and survival. The PI3Kδ enzyme complex is primarily present in the ... ...

Abstract	The phosphatidylinositol 3-kinase (PI3K) signaling pathway is involved in a broad range of cellular processes, including growth, metabolism, differentiation, proliferation, motility, and survival. The PI3Kδ enzyme complex is primarily present in the immune system and comprises a catalytic (p110δ) and regulatory (p85α) subunit. Dynamic regulation of PI3Kδ activity is required to ensure normal function and differentiation of immune cells. In the last decade, discovery of germline mutations in genes involved in the PI3Kδ pathway (PIK3CD, PIK3R1, or phosphatase and tensin homolog [PTEN]) proved that both overactivation and underactivation (gain of function and loss of function, respectively) of PI3Kδ lead to impaired and dysregulated immunity. Although a small group of patients reported to underactivate PI3Kδ show predominantly humoral defects and autoimmune features, more than 200 patients have been described with overactivation of PI3Kδ, presenting with a much more complex phenotype of combined immunodeficiency and immune dysregulation. The clinical and immunologic characterization, as well as current pathophysiologic understanding and specific therapies for PI3K pathway defects leading to immunodeficiency and immune dysregulation, are reviewed here.
MeSH term(s)	Animals ; Autoimmunity ; Cell Differentiation ; Class I Phosphatidylinositol 3-Kinases/genetics ; Class I Phosphatidylinositol 3-Kinases/metabolism ; Humans ; Immune System/physiology ; Immunity, Humoral ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/metabolism ; Mutation/genetics ; Phenotype ; Phosphatidylinositol 3-Kinases/metabolism ; Signal Transduction
Chemical Substances	Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137) ; PIK3CD protein, human (EC 2.7.1.137)
Language	English
Publishing date	2019-05-06
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Review
ZDB-ID	121011-7
ISSN	1097-6825 ; 1085-8725 ; 0091-6749
ISSN (online)	1097-6825 ; 1085-8725
ISSN	0091-6749
DOI	10.1016/j.jaci.2019.03.017
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Article ; Online: A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.

Stojkic, Ivana / Prince, Benjamin T / Kuehn, Hye Sun / Gil Silva, Agustin A / Varga, Elizabeth A / Rosenzweig, Sergio D / Ramadesikan, Swetha / Supinger, Rachel / Marhabaie, Mohammad / Chang, Peter / Mardis, Elaine R / Koboldt, Daniel C

Clinical immunology (Orlando, Fla.)

2024 Volume 264, Page(s) 110244

Abstract: Common variable immune deficiency (CVID) is a heterogenous group of disorders characterized by varying degrees of hypogammaglobulinemia, recurrent infections, and autoimmunity. Currently, pathogenic variants are identified in approximately 20-30% of CVID ...

Abstract	Common variable immune deficiency (CVID) is a heterogenous group of disorders characterized by varying degrees of hypogammaglobulinemia, recurrent infections, and autoimmunity. Currently, pathogenic variants are identified in approximately 20-30% of CVID cases. Here we report a 3-generation family with autosomal dominant Common Variable Immunodeficiency (CVID) diagnosed in 9 affected individuals. Although primary immune deficiency panels and exome sequencing were non-diagnostic, whole genome sequencing revealed a novel, pathogenic c.499C > T: p.His167Tyr variant in IKZF1, a critical regulator of B cell development. Functional testing done through pericentromeric heterochromatin localization and light shift chemiluminescent electrophoretic mobility shift assay confirmed the variant's deleterious effect via a haploinsufficiency mechanism. Our findings expand the spectrum of known IKZF1 mutations and contribute to a more comprehensive understanding of CVID's genetic heterogeneity. Furthermore, this case underscores the importance of considering whole genome sequencing for comprehensive genetic diagnosis when concern for a monogenic inborn errors of immunity is high.
Language	English
Publishing date	2024-05-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	1459903-x
ISSN	1521-7035 ; 1521-6616
ISSN (online)	1521-7035
ISSN	1521-6616
DOI	10.1016/j.clim.2024.110244
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