RapamycinFungusV1, Main, Exploration, bibRecord, 000505

Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Identifieur interne : 000505 ( Main/Exploration ); précédent : 000504; suivant : 000506

Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Source :

Journal of clinical immunology [ 1573-2592 ] ; 2018.

RBID : pubmed:30499059

Descripteurs français

KwdFr :
- Adolescent (MeSH), Déficits immunitaires (immunologie), Déficits immunitaires (traitement médicamenteux), Enfant (MeSH), Enfant d'âge préscolaire (MeSH), Femelle (MeSH), Humains (MeSH), Hépatomégalie (MeSH), Immunoglobuline M (sang), Infections de l'appareil respiratoire (MeSH), Lymphadénopathie (MeSH), Lymphocytes T (immunologie), Mutation (génétique), Mâle (MeSH), Nourrisson (MeSH), Phosphatidylinositol 3-kinase de classe Ia (métabolisme), Phosphatidylinositol 3-kinases de classe I (génétique), Phosphatidylinositol 3-kinases de classe I (immunologie), Phosphorylation (MeSH), Protéine oncogène v-akt (métabolisme), Précurseurs lymphoïdes B (immunologie), Sirolimus (usage thérapeutique), Sérine-thréonine kinases TOR (métabolisme), Transduction du signal (MeSH), Études de cohortes (MeSH).
MESH :
- génétique : Mutation, Phosphatidylinositol 3-kinases de classe I.
- immunologie : Déficits immunitaires, Lymphocytes T, Phosphatidylinositol 3-kinases de classe I, Précurseurs lymphoïdes B.
- métabolisme : Phosphatidylinositol 3-kinase de classe Ia, Protéine oncogène v-akt, Sérine-thréonine kinases TOR.
- sang : Immunoglobuline M.
- traitement médicamenteux : Déficits immunitaires.
- usage thérapeutique : Sirolimus.
- Adolescent, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Hépatomégalie, Infections de l'appareil respiratoire, Lymphadénopathie, Mâle, Nourrisson, Phosphorylation, Transduction du signal, Études de cohortes.

English descriptors

KwdEn :
- Adolescent (MeSH), Child (MeSH), Child, Preschool (MeSH), Class I Phosphatidylinositol 3-Kinases (genetics), Class I Phosphatidylinositol 3-Kinases (immunology), Class Ia Phosphatidylinositol 3-Kinase (metabolism), Cohort Studies (MeSH), Female (MeSH), Hepatomegaly (MeSH), Humans (MeSH), Immunoglobulin M (blood), Immunologic Deficiency Syndromes (drug therapy), Immunologic Deficiency Syndromes (immunology), Infant (MeSH), Lymphadenopathy (MeSH), Male (MeSH), Mutation (genetics), Oncogene Protein v-akt (metabolism), Phosphorylation (MeSH), Precursor Cells, B-Lymphoid (immunology), Primary Immunodeficiency Diseases (MeSH), Respiratory Tract Infections (MeSH), Signal Transduction (MeSH), Sirolimus (therapeutic use), T-Lymphocytes (immunology), TOR Serine-Threonine Kinases (metabolism).
MESH :
- chemical , blood : Immunoglobulin M.
- chemical , genetics : Class I Phosphatidylinositol 3-Kinases.
- chemical , immunology : Class I Phosphatidylinositol 3-Kinases.
- chemical , metabolism : Class Ia Phosphatidylinositol 3-Kinase, Oncogene Protein v-akt, TOR Serine-Threonine Kinases.
- drug therapy : Immunologic Deficiency Syndromes.
- genetics : Mutation.
- immunology : Immunologic Deficiency Syndromes, Precursor Cells, B-Lymphoid, T-Lymphocytes.
- chemical , therapeutic use : Sirolimus.
- Adolescent, Child, Child, Preschool, Cohort Studies, Female, Hepatomegaly, Humans, Infant, Lymphadenopathy, Male, Phosphorylation, Primary Immunodeficiency Diseases, Respiratory Tract Infections, Signal Transduction.

Abstract

PURPOSE

We aimed to report the clinical manifestations and immunological features of activated phosphatidylinositol 3-kinase δ syndrome 1 (APDS1) in a Chinese cohort. Moreover, we investigated the efficacy and safety of rapamycin therapy for Chinese patients with APDS1.

METHODS

Fifteen Chinese patients with APDS1 from 14 unrelated families were enrolled in this study. These patients were diagnosed based on clinical features, immunological phenotype, and whole-exome sequencing. Four patients were treated with rapamycin, and the clinical efficacy and safety of rapamycin were observed. The changes of phosphorylation of Akt and mammalian target of rapamycin (mTOR) signaling pathway after rapamycin treatment were detected by flow cytometry and real-time PCR.

RESULTS

The common clinical manifestations of the patients included lymphadenopathy (93%), recurrent sinopulmonary infections (93%), hepatosplenomegaly (93%), and diarrhea (78%). Epstein-Barr virus (EBV) (80%) and fungus (Aspergillus) (47%) were the most common pathogens. Immunological phenotype included elevated Immunoglobulin (Ig) M levels (100%), decreased naive T cells, increased senescent T cells, and expanded transitional B cells. Whole-exome sequencing indicated that 13 patients had heterogeneous PIK3CD E1021K mutations, 1 patient had heterogeneous E1025G mutation and 1 patient had heterogeneous Y524N mutation. Gain-of-function (GOF) PIK3CD mutations increased the phosphorylation of the Akt-mTOR signaling pathway. Four patients underwent rapamycin therapy, experiencing substantial improvement in clinical symptoms and immunological phenotype. Rapamycin inhibited the activated Akt-mTOR signaling pathway.

CONCLUSIONS

We described 15 Chinese patients with APDS1. Treatment with the mTOR inhibitor rapamycin improved patient outcomes.

DOI: 10.1007/s10875-018-0568-x
PubMed: 30499059

Affiliations:

République populaire de Chine

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Le document en format XML

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<author><name sortKey="Yao, Haili" sort="Yao, Haili" uniqKey="Yao H" first="Haili" last="Yao">Haili Yao</name>
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<author><name sortKey="Sun, Jinqiao" sort="Sun, Jinqiao" uniqKey="Sun J" first="Jinqiao" last="Sun">Jinqiao Sun</name>
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<author><name sortKey="Wang, Wenjie" sort="Wang, Wenjie" uniqKey="Wang W" first="Wenjie" last="Wang">Wenjie Wang</name>
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<author><name sortKey="Liu, Luyao" sort="Liu, Luyao" uniqKey="Liu L" first="Luyao" last="Liu">Luyao Liu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
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<author><name sortKey="Hou, Jia" sort="Hou, Jia" uniqKey="Hou J" first="Jia" last="Hou">Jia Hou</name>
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<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102</wicri:regionArea>
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<author><name sortKey="Ying, Wenjing" sort="Ying, Wenjing" uniqKey="Ying W" first="Wenjing" last="Ying">Wenjing Ying</name>
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<author><name sortKey="Hui, Xiaoying" sort="Hui, Xiaoying" uniqKey="Hui X" first="Xiaoying" last="Hui">Xiaoying Hui</name>
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<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102</wicri:regionArea>
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<author><name sortKey="Zhou, Qinhua" sort="Zhou, Qinhua" uniqKey="Zhou Q" first="Qinhua" last="Zhou">Qinhua Zhou</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102</wicri:regionArea>
<wicri:noRegion>201102</wicri:noRegion>
</affiliation>
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<author><name sortKey="Liu, Danru" sort="Liu, Danru" uniqKey="Liu D" first="Danru" last="Liu">Danru Liu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102</wicri:regionArea>
<wicri:noRegion>201102</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yao, Haili" sort="Yao, Haili" uniqKey="Yao H" first="Haili" last="Yao">Haili Yao</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102</wicri:regionArea>
<wicri:noRegion>201102</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sun, Jinqiao" sort="Sun, Jinqiao" uniqKey="Sun J" first="Jinqiao" last="Sun">Jinqiao Sun</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. jinqiaosun@fudan.edu.cn.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102</wicri:regionArea>
<wicri:noRegion>201102</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wang, Xiaochuan" sort="Wang, Xiaochuan" uniqKey="Wang X" first="Xiaochuan" last="Wang">Xiaochuan Wang</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. xchwang@shmu.edu.cn.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102</wicri:regionArea>
<wicri:noRegion>201102</wicri:noRegion>
</affiliation>
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<series><title level="j">Journal of clinical immunology</title>
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<imprint><date when="2018" type="published">2018</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent (MeSH)</term>
<term>Child (MeSH)</term>
<term>Child, Preschool (MeSH)</term>
<term>Class I Phosphatidylinositol 3-Kinases (genetics)</term>
<term>Class I Phosphatidylinositol 3-Kinases (immunology)</term>
<term>Class Ia Phosphatidylinositol 3-Kinase (metabolism)</term>
<term>Cohort Studies (MeSH)</term>
<term>Female (MeSH)</term>
<term>Hepatomegaly (MeSH)</term>
<term>Humans (MeSH)</term>
<term>Immunoglobulin M (blood)</term>
<term>Immunologic Deficiency Syndromes (drug therapy)</term>
<term>Immunologic Deficiency Syndromes (immunology)</term>
<term>Infant (MeSH)</term>
<term>Lymphadenopathy (MeSH)</term>
<term>Male (MeSH)</term>
<term>Mutation (genetics)</term>
<term>Oncogene Protein v-akt (metabolism)</term>
<term>Phosphorylation (MeSH)</term>
<term>Precursor Cells, B-Lymphoid (immunology)</term>
<term>Primary Immunodeficiency Diseases (MeSH)</term>
<term>Respiratory Tract Infections (MeSH)</term>
<term>Signal Transduction (MeSH)</term>
<term>Sirolimus (therapeutic use)</term>
<term>T-Lymphocytes (immunology)</term>
<term>TOR Serine-Threonine Kinases (metabolism)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent (MeSH)</term>
<term>Déficits immunitaires (immunologie)</term>
<term>Déficits immunitaires (traitement médicamenteux)</term>
<term>Enfant (MeSH)</term>
<term>Enfant d'âge préscolaire (MeSH)</term>
<term>Femelle (MeSH)</term>
<term>Humains (MeSH)</term>
<term>Hépatomégalie (MeSH)</term>
<term>Immunoglobuline M (sang)</term>
<term>Infections de l'appareil respiratoire (MeSH)</term>
<term>Lymphadénopathie (MeSH)</term>
<term>Lymphocytes T (immunologie)</term>
<term>Mutation (génétique)</term>
<term>Mâle (MeSH)</term>
<term>Nourrisson (MeSH)</term>
<term>Phosphatidylinositol 3-kinase de classe Ia (métabolisme)</term>
<term>Phosphatidylinositol 3-kinases de classe I (génétique)</term>
<term>Phosphatidylinositol 3-kinases de classe I (immunologie)</term>
<term>Phosphorylation (MeSH)</term>
<term>Protéine oncogène v-akt (métabolisme)</term>
<term>Précurseurs lymphoïdes B (immunologie)</term>
<term>Sirolimus (usage thérapeutique)</term>
<term>Sérine-thréonine kinases TOR (métabolisme)</term>
<term>Transduction du signal (MeSH)</term>
<term>Études de cohortes (MeSH)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Immunoglobulin M</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Class I Phosphatidylinositol 3-Kinases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="immunology" xml:lang="en"><term>Class I Phosphatidylinositol 3-Kinases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Class Ia Phosphatidylinositol 3-Kinase</term>
<term>Oncogene Protein v-akt</term>
<term>TOR Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Immunologic Deficiency Syndromes</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Mutation</term>
<term>Phosphatidylinositol 3-kinases de classe I</term>
</keywords>
<keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Déficits immunitaires</term>
<term>Lymphocytes T</term>
<term>Phosphatidylinositol 3-kinases de classe I</term>
<term>Précurseurs lymphoïdes B</term>
</keywords>
<keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Immunologic Deficiency Syndromes</term>
<term>Precursor Cells, B-Lymphoid</term>
<term>T-Lymphocytes</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Phosphatidylinositol 3-kinase de classe Ia</term>
<term>Protéine oncogène v-akt</term>
<term>Sérine-thréonine kinases TOR</term>
</keywords>
<keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Immunoglobuline M</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Sirolimus</term>
</keywords>
<keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Déficits immunitaires</term>
</keywords>
<keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Sirolimus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Hepatomegaly</term>
<term>Humans</term>
<term>Infant</term>
<term>Lymphadenopathy</term>
<term>Male</term>
<term>Phosphorylation</term>
<term>Primary Immunodeficiency Diseases</term>
<term>Respiratory Tract Infections</term>
<term>Signal Transduction</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hépatomégalie</term>
<term>Infections de l'appareil respiratoire</term>
<term>Lymphadénopathie</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Phosphorylation</term>
<term>Transduction du signal</term>
<term>Études de cohortes</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p><b>PURPOSE</b>
</p>
<p>We aimed to report the clinical manifestations and immunological features of activated phosphatidylinositol 3-kinase δ syndrome 1 (APDS1) in a Chinese cohort. Moreover, we investigated the efficacy and safety of rapamycin therapy for Chinese patients with APDS1.</p>
</div>
<div type="abstract" xml:lang="en"><p><b>METHODS</b>
</p>
<p>Fifteen Chinese patients with APDS1 from 14 unrelated families were enrolled in this study. These patients were diagnosed based on clinical features, immunological phenotype, and whole-exome sequencing. Four patients were treated with rapamycin, and the clinical efficacy and safety of rapamycin were observed. The changes of phosphorylation of Akt and mammalian target of rapamycin (mTOR) signaling pathway after rapamycin treatment were detected by flow cytometry and real-time PCR.</p>
</div>
<div type="abstract" xml:lang="en"><p><b>RESULTS</b>
</p>
<p>The common clinical manifestations of the patients included lymphadenopathy (93%), recurrent sinopulmonary infections (93%), hepatosplenomegaly (93%), and diarrhea (78%). Epstein-Barr virus (EBV) (80%) and fungus (Aspergillus) (47%) were the most common pathogens. Immunological phenotype included elevated Immunoglobulin (Ig) M levels (100%), decreased naive T cells, increased senescent T cells, and expanded transitional B cells. Whole-exome sequencing indicated that 13 patients had heterogeneous PIK3CD E1021K mutations, 1 patient had heterogeneous E1025G mutation and 1 patient had heterogeneous Y524N mutation. Gain-of-function (GOF) PIK3CD mutations increased the phosphorylation of the Akt-mTOR signaling pathway. Four patients underwent rapamycin therapy, experiencing substantial improvement in clinical symptoms and immunological phenotype. Rapamycin inhibited the activated Akt-mTOR signaling pathway.</p>
</div>
<div type="abstract" xml:lang="en"><p><b>CONCLUSIONS</b>
</p>
<p>We described 15 Chinese patients with APDS1. Treatment with the mTOR inhibitor rapamycin improved patient outcomes.</p>
</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">30499059</PMID>
<DateCompleted><Year>2019</Year>
<Month>09</Month>
<Day>30</Day>
</DateCompleted>
<DateRevised><Year>2020</Year>
<Month>03</Month>
<Day>09</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1573-2592</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>38</Volume>
<Issue>8</Issue>
<PubDate><Year>2018</Year>
<Month>11</Month>
</PubDate>
</JournalIssue>
<Title>Journal of clinical immunology</Title>
<ISOAbbreviation>J Clin Immunol</ISOAbbreviation>
</Journal>
<ArticleTitle>Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.</ArticleTitle>
<Pagination><MedlinePgn>854-863</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1007/s10875-018-0568-x</ELocationID>
<Abstract><AbstractText Label="PURPOSE">We aimed to report the clinical manifestations and immunological features of activated phosphatidylinositol 3-kinase δ syndrome 1 (APDS1) in a Chinese cohort. Moreover, we investigated the efficacy and safety of rapamycin therapy for Chinese patients with APDS1.</AbstractText>
<AbstractText Label="METHODS">Fifteen Chinese patients with APDS1 from 14 unrelated families were enrolled in this study. These patients were diagnosed based on clinical features, immunological phenotype, and whole-exome sequencing. Four patients were treated with rapamycin, and the clinical efficacy and safety of rapamycin were observed. The changes of phosphorylation of Akt and mammalian target of rapamycin (mTOR) signaling pathway after rapamycin treatment were detected by flow cytometry and real-time PCR.</AbstractText>
<AbstractText Label="RESULTS">The common clinical manifestations of the patients included lymphadenopathy (93%), recurrent sinopulmonary infections (93%), hepatosplenomegaly (93%), and diarrhea (78%). Epstein-Barr virus (EBV) (80%) and fungus (Aspergillus) (47%) were the most common pathogens. Immunological phenotype included elevated Immunoglobulin (Ig) M levels (100%), decreased naive T cells, increased senescent T cells, and expanded transitional B cells. Whole-exome sequencing indicated that 13 patients had heterogeneous PIK3CD E1021K mutations, 1 patient had heterogeneous E1025G mutation and 1 patient had heterogeneous Y524N mutation. Gain-of-function (GOF) PIK3CD mutations increased the phosphorylation of the Akt-mTOR signaling pathway. Four patients underwent rapamycin therapy, experiencing substantial improvement in clinical symptoms and immunological phenotype. Rapamycin inhibited the activated Akt-mTOR signaling pathway.</AbstractText>
<AbstractText Label="CONCLUSIONS">We described 15 Chinese patients with APDS1. Treatment with the mTOR inhibitor rapamycin improved patient outcomes.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wang</LastName>
<ForeName>Ying</ForeName>
<Initials>Y</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wang</LastName>
<ForeName>Wenjie</ForeName>
<Initials>W</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Liu</LastName>
<ForeName>Luyao</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hou</LastName>
<ForeName>Jia</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ying</LastName>
<ForeName>Wenjing</ForeName>
<Initials>W</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hui</LastName>
<ForeName>Xiaoying</ForeName>
<Initials>X</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zhou</LastName>
<ForeName>Qinhua</ForeName>
<Initials>Q</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Liu</LastName>
<ForeName>Danru</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yao</LastName>
<ForeName>Haili</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sun</LastName>
<ForeName>Jinqiao</ForeName>
<Initials>J</Initials>
<Identifier Source="ORCID">0000-0001-9125-8581</Identifier>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. jinqiaosun@fudan.edu.cn.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wang</LastName>
<ForeName>Xiaochuan</ForeName>
<Initials>X</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. xchwang@shmu.edu.cn.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2018</Year>
<Month>11</Month>
<Day>29</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>Netherlands</Country>
<MedlineTA>J Clin Immunol</MedlineTA>
<NlmUniqueID>8102137</NlmUniqueID>
<ISSNLinking>0271-9142</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D007075">Immunoglobulin M</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.1.1</RegistryNumber>
<NameOfSubstance UI="D058570">TOR Serine-Threonine Kinases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.1.137</RegistryNumber>
<NameOfSubstance UI="D058534">Class I Phosphatidylinositol 3-Kinases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.1.137</RegistryNumber>
<NameOfSubstance UI="D058543">Class Ia Phosphatidylinositol 3-Kinase</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.1.137</RegistryNumber>
<NameOfSubstance UI="C486018">PIK3CD protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="D051058">Oncogene Protein v-akt</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>W36ZG6FT64</RegistryNumber>
<NameOfSubstance UI="D020123">Sirolimus</NameOfSubstance>
</Chemical>
</ChemicalList>
<SupplMeshList><SupplMeshName Type="Disease" UI="C585640">Activated PI3K-delta Syndrome</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D058534" MajorTopicYN="N">Class I Phosphatidylinositol 3-Kinases</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000276" MajorTopicYN="N">immunology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D058543" MajorTopicYN="N">Class Ia Phosphatidylinositol 3-Kinase</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006529" MajorTopicYN="N">Hepatomegaly</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007075" MajorTopicYN="N">Immunoglobulin M</DescriptorName>
<QualifierName UI="Q000097" MajorTopicYN="N">blood</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007153" MajorTopicYN="N">Immunologic Deficiency Syndromes</DescriptorName>
<QualifierName UI="Q000188" MajorTopicYN="N">drug therapy</QualifierName>
<QualifierName UI="Q000276" MajorTopicYN="Y">immunology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000072281" MajorTopicYN="N">Lymphadenopathy</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D051058" MajorTopicYN="N">Oncogene Protein v-akt</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010766" MajorTopicYN="N">Phosphorylation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D054448" MajorTopicYN="N">Precursor Cells, B-Lymphoid</DescriptorName>
<QualifierName UI="Q000276" MajorTopicYN="Y">immunology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000081207" MajorTopicYN="N">Primary Immunodeficiency Diseases</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012141" MajorTopicYN="N">Respiratory Tract Infections</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015398" MajorTopicYN="N">Signal Transduction</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020123" MajorTopicYN="N">Sirolimus</DescriptorName>
<QualifierName UI="Q000627" MajorTopicYN="Y">therapeutic use</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013601" MajorTopicYN="N">T-Lymphocytes</DescriptorName>
<QualifierName UI="Q000276" MajorTopicYN="Y">immunology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D058570" MajorTopicYN="N">TOR Serine-Threonine Kinases</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">Activated phosphoinositide 3-kinase δ syndrome</Keyword>
<Keyword MajorTopicYN="Y">PIK3CD gene</Keyword>
<Keyword MajorTopicYN="Y">primary immunodeficiency</Keyword>
<Keyword MajorTopicYN="Y">rapamycin</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2018</Year>
<Month>08</Month>
<Day>21</Day>
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<affiliations><list><country><li>République populaire de Chine</li>
</country>
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<tree><country name="République populaire de Chine"><noRegion><name sortKey="Wang, Ying" sort="Wang, Ying" uniqKey="Wang Y" first="Ying" last="Wang">Ying Wang</name>
</noRegion>
<name sortKey="Hou, Jia" sort="Hou, Jia" uniqKey="Hou J" first="Jia" last="Hou">Jia Hou</name>
<name sortKey="Hui, Xiaoying" sort="Hui, Xiaoying" uniqKey="Hui X" first="Xiaoying" last="Hui">Xiaoying Hui</name>
<name sortKey="Liu, Danru" sort="Liu, Danru" uniqKey="Liu D" first="Danru" last="Liu">Danru Liu</name>
<name sortKey="Liu, Luyao" sort="Liu, Luyao" uniqKey="Liu L" first="Luyao" last="Liu">Luyao Liu</name>
<name sortKey="Sun, Jinqiao" sort="Sun, Jinqiao" uniqKey="Sun J" first="Jinqiao" last="Sun">Jinqiao Sun</name>
<name sortKey="Wang, Wenjie" sort="Wang, Wenjie" uniqKey="Wang W" first="Wenjie" last="Wang">Wenjie Wang</name>
<name sortKey="Wang, Xiaochuan" sort="Wang, Xiaochuan" uniqKey="Wang X" first="Xiaochuan" last="Wang">Xiaochuan Wang</name>
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<name sortKey="Ying, Wenjing" sort="Ying, Wenjing" uniqKey="Ying W" first="Wenjing" last="Ying">Wenjing Ying</name>
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Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

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