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  1. Article ; Online: A multifaceted disease: The stats of STAT3 GOF.

    Freeman, Alexandra F / Bergerson, Jenna R E

    The Journal of allergy and clinical immunology

    2023  Volume 151, Issue 4, Page(s) 901–903

    MeSH term(s) Humans ; Mutation ; Gain of Function Mutation ; STAT3 Transcription Factor/genetics ; STAT3 Transcription Factor/metabolism ; STAT1 Transcription Factor/genetics
    Chemical Substances STAT3 Transcription Factor ; STAT1 Transcription Factor ; STAT3 protein, human
    Language English
    Publishing date 2023-02-21
    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.2023.02.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Correction to: Malignancy in STAT3 Deficient Hyper IgE Syndrome.

    Urban, Amanda / Pittaluga, Stefania / Freeman, Alexandra F

    Journal of clinical immunology

    2022  Volume 42, Issue 6, Page(s) 1348

    Language English
    Publishing date 2022-04-18
    Publishing country Netherlands
    Document type Published Erratum
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-022-01269-7
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  3. Article ; Online: Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis.

    Ma, Cindy S / Freeman, Alexandra F / Fleisher, Thomas A

    The journal of allergy and clinical immunology. In practice

    2023  Volume 11, Issue 6, Page(s) 1579–1591

    Abstract: With the exponential discovery of new inborn errors of immunity (IEI), it is becoming increasingly difficult to differentiate between a number of the more recently defined disorders. This is compounded by the fact that although IEI primarily present with ...

    Abstract With the exponential discovery of new inborn errors of immunity (IEI), it is becoming increasingly difficult to differentiate between a number of the more recently defined disorders. This is compounded by the fact that although IEI primarily present with immunodeficiency, the spectrum of disease is broad and often extends to features typical of autoimmunity, autoinflammation, atopic disease, and/or malignancy. Here we use case studies to discuss the laboratory and genetic tests used that ultimately led to the specific diagnoses.
    MeSH term(s) Humans ; Flow Cytometry ; Autoimmunity ; Genetic Testing
    Language English
    Publishing date 2023-04-11
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2023.03.049
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  4. Article ; Online: Malignancy in STAT3 Deficient Hyper IgE Syndrome.

    Urban, Amanda / Pittaluga, Stefania / Freeman, Alexandra F

    Journal of clinical immunology

    2022  Volume 42, Issue 3, Page(s) 699–702

    MeSH term(s) Humans ; Job Syndrome/diagnosis ; Job Syndrome/genetics ; Mutation ; Neoplasms ; STAT3 Transcription Factor/genetics ; STAT3 Transcription Factor/metabolism
    Chemical Substances STAT3 Transcription Factor ; STAT3 protein, human
    Language English
    Publishing date 2022-01-21
    Publishing country Netherlands
    Document type Letter ; Research Support, N.I.H., Intramural
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-021-01197-y
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  5. Article ; Online: Resolving persistent air leaks associated with autosomal dominant hyper-IgE syndrome using one-way endobronchial valves: report of cases.

    Kucera, John / Buhaya, Munir / Sartain, Nicole Nix / Olivier, Kenneth N / Freeman, Alexandra F / Hoang, Chuong D

    AME case reports

    2024  Volume 8, Page(s) 43

    Abstract: Background: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare genetic syndrome that alters typical post-operative wound healing. AD-HIES patients are prone to develop persistent air leaks (PALs) due to bronchopleural fistulas. This report is ... ...

    Abstract Background: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare genetic syndrome that alters typical post-operative wound healing. AD-HIES patients are prone to develop persistent air leaks (PALs) due to bronchopleural fistulas. This report is unique in that it describes a novel approach to managing PALs in this complex population.
    Case description: Two patients with AD-HIES were identified in the setting of a PAL. The first patient was a 31-year-old male with recurrent pneumonia, who developed a large hydropneumothorax following re-presentation with fever and cough. A chest tube was inserted, which required continuous suction in the setting of what developed into a PAL. Subsequently, an endobronchial valve (EBV) was deployed to successfully manage the PAL. The second patient was a 25-year-old male, who developed a post-operative large volume air leak following a complicated surgical resection of a giant pneumatocele. Several attempts of placing multiple EBVs were required to finally address the PAL. In both cases, EBVs were successfully employed to manage and eventually resolve symptoms caused by PAL.
    Conclusions: Our experience suggests that EBVs are successful in treating PAL in the setting of AD-HIES, which often manifests as highly complex scenarios. Hence, EBVs represent a valuable addition to the therapeutic armamentarium against recalcitrant PAL. EBVs were well-tolerated in patients afflicted by AD-HIES, with no progressive infections noted. Both patients ultimately were able to resolve their PAL following placement of the EBV.
    Language English
    Publishing date 2024-03-20
    Publishing country China
    Document type Case Reports
    ISSN 2523-1995
    ISSN (online) 2523-1995
    DOI 10.21037/acr-23-35
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.

    Freeman, Alexandra F

    Journal of the Pediatric Infectious Diseases Society

    2018  Volume 7, Issue suppl_2, Page(s) S79–S82

    Abstract: Hematopoietic stem cell transplantation (HSCT) has been the standard of care for infants with severe combined immunodeficiency (SCID) for several decades due to the dismal prognosis early in life without immune reconstitution. In recent years, as HSCT ... ...

    Abstract Hematopoietic stem cell transplantation (HSCT) has been the standard of care for infants with severe combined immunodeficiency (SCID) for several decades due to the dismal prognosis early in life without immune reconstitution. In recent years, as HSCT conditioning regimens and supportive care have greatly improved, HSCT is gaining in acceptance for more non-SCID primary immunodeficiencies (PIDs) and outside the early childhood period. In addition, potential donor options for non-SCID PIDs are expanding with increasing success for haploidentical donor transplants. In this brief report of a presentation at the PIDS-St. Jude 2018 conference, PIDs for which transplants are increasingly performed outside of early childhood will be discussed.
    MeSH term(s) Child ; GATA2 Deficiency/therapy ; Guanine Nucleotide Exchange Factors/deficiency ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunologic Deficiency Syndromes/therapy ; Infant ; Severe Combined Immunodeficiency/therapy
    Chemical Substances DOCK8 protein, human ; Guanine Nucleotide Exchange Factors
    Language English
    Publishing date 2018-12-27
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2668791-4
    ISSN 2048-7207 ; 2048-7193
    ISSN (online) 2048-7207
    ISSN 2048-7193
    DOI 10.1093/jpids/piy114
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  7. Article: Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation.

    Dimitriades, Victoria R / Freeman, Alexandra F / Henrickson, Sarah E / Abraham, Roshini S

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 864734

    Language English
    Publishing date 2022-03-29
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.864734
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  8. Article: Chronic Liver Disease in Patients with Prolidase Deficiency: A Case Series.

    Gopalakrishna, Harish / Asif, Bilal / Rai, Anjali / Conjeevaram, Hari S / Mironova, Maria / Kleiner, David E / Freeman, Alexandra F / Heller, Theo

    Case reports in gastroenterology

    2024  Volume 18, Issue 1, Page(s) 49–57

    Abstract: Introduction: Prolidase deficiency is a rare autosomal recessive disorder caused by variants in the : Case presentation: Here, we present 3 patients with prolidase deficiency with varying extents of hepatic involvement.: Conclusion: Prolidase ... ...

    Abstract Introduction: Prolidase deficiency is a rare autosomal recessive disorder caused by variants in the
    Case presentation: Here, we present 3 patients with prolidase deficiency with varying extents of hepatic involvement.
    Conclusion: Prolidase deficiency patients with liver disease should be followed up long term to understand more about the pathophysiology and the impact of liver disease on long-term outcomes.
    Language English
    Publishing date 2024-02-01
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2440540-1
    ISSN 1662-0631
    ISSN 1662-0631
    DOI 10.1159/000536117
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  9. Article ; Online: Eosinophilia Associated With Immune Deficiency.

    Olbrich, Peter / Ortiz Aljaro, Pilar / Freeman, Alexandra F

    The journal of allergy and clinical immunology. In practice

    2022  Volume 10, Issue 5, Page(s) 1140–1153

    Abstract: The differential diagnosis of eosinophilia is broad and includes infections, malignancies, and atopy as well as inborn errors of immunity (IEI). Certain types of IEIs are known to be associated with elevated numbers of eosinophils and frequently elevated ...

    Abstract The differential diagnosis of eosinophilia is broad and includes infections, malignancies, and atopy as well as inborn errors of immunity (IEI). Certain types of IEIs are known to be associated with elevated numbers of eosinophils and frequently elevated serum IgE, whereas for others the degree and frequency of eosinophilia are less established. The molecular defects underlying IEI are heterogeneous and affect different pathways, which highlights the complex regulations of this cell population within the immune system. In this review, we list and discuss clinical manifestations and therapies of immune deficiency or immune dysregulation disorders associated with peripheral blood or tissue eosinophilia with or without raised IgE levels. We present illustrative case vignettes for the most common entities and propose a diagnostic algorithm aiming to help physicians systematically to evaluate patients with eosinophilia and suspicion of an underlying IEI.
    MeSH term(s) Eosinophilia/diagnosis ; Humans ; Hypersensitivity, Immediate ; Immunoglobulin E ; Immunologic Deficiency Syndromes ; Primary Immunodeficiency Diseases
    Chemical Substances Immunoglobulin E (37341-29-0)
    Language English
    Publishing date 2022-02-25
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2022.02.016
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  10. Article ; Online: HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions.

    Cook, Sarah / Lenardo, Michael J / Freeman, Alexandra F

    Journal of clinical immunology

    2022  Volume 42, Issue 8, Page(s) 1583–1592

    Abstract: Cells of the innate and adaptive immune systems depend on proper actin dynamics to control cell behavior for effective immune responses. Dysregulated actin networks are known to play a pathogenic role in an increasing number of inborn errors of immunity. ...

    Abstract Cells of the innate and adaptive immune systems depend on proper actin dynamics to control cell behavior for effective immune responses. Dysregulated actin networks are known to play a pathogenic role in an increasing number of inborn errors of immunity. The WAVE regulatory complex (WRC) mediates branched actin polymerization, a process required for key cellular functions including migration, phagocytosis, vesicular transport, and immune synapse formation. Recent reports of pathogenic variants in NCKAP1L, a hematopoietically restricted gene encoding the HEM1 protein component of the WRC, defined a novel disease involving recurrent bacterial and viral infections, autoimmunity, and excessive inflammation (OMIM 141180). This review summarizes the diverse clinical presentations and immunological phenotypes observed in HEM1-deficient patients. In addition, we integrate the pathophysiological mechanisms described in current literature and highlight the outstanding questions for diagnosis and management of the HEM1 actin immunodysregulatory disorder.
    MeSH term(s) Humans ; Actins/genetics ; Actins/metabolism ; Phagocytosis/genetics ; Autoimmunity/genetics ; Phenotype ; Genotype ; Membrane Proteins/genetics
    Chemical Substances Actins ; NCKAP1L protein, human (144351-15-5) ; Membrane Proteins
    Language English
    Publishing date 2022-07-22
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-022-01327-0
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