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Abbreviation : PID
Long Form : primary immunodeficiency diseases
No. Year Title Co-occurring Abbreviation
2022 An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years. ---
2022 Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms. AT, classical A-T
2022 Cytometric analysis and clinical features in a Moroccan cohort with severe combined immunodeficiency. SCID
2022 Detection of a Highly Divergent Type 3 Vaccine-Derived Poliovirus in a Child with a Severe Primary Immunodeficiency Disorder - Chongqing, China, 2022. AFP, iVDPV, OPV, VAPP, VDPVs
2022 Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections. ---
2022 Efficacy, safety and pharmacokinetics of a new 10% normal human immunoglobulin for intravenous infusion, BT595, in children and adults with primary immunodeficiency disease. AE, SBIs
2022 Evaluation of Specific Antibody Responses in Patients with Selective IgA Deficiency and Ataxia Telangiectasia. AT, IgG, IgM, SAD, SIgAD, SMB
2022 Generation of human induced pluripotent stem cell line from peripheral blood mononuclear cells from an activated phosphoinositide 3-kinase δ syndrome patient. APDS, hiPSC, PBMCs
2022 Hem-1 regulates protective humoral immunity and limits autoantibody production in a B cell-specific manner. ABC cells, FO, Hem-1, MZ, WAVE
10  2022 Hemophagocytic lymphohistiocytosis in a child with chronic granulomatous disease: A rare complication of a rare disorder. CGD, DHR, HLH, NADPH, NBT
11  2022 Novel mutations in unrelated Vietnamese patients with chronic granulomatous disease. CGD, DHR, HSCT, WES
12  2022 Omalizumab for STAT3 Hyper-IgE Syndromes in Adulthood: A Case Report and Literature Review. ABPA, IgE
13  2022 SCIG administration: A promising and patient convenient alternative for those receiving long-term IVIG. IVIG, SCIG
14  2022 Subcutaneous immunoglobulin use in immunoglobulin-naive patients with primary immunodeficiency: a systematic review. HRQoL, Ig, SCIG
15  2021 A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations. NGS, RAG, SCID
16  2021 Atopic manifestations are underestimated clinical features in various primary immunodeficiency disease phenotypes. ---
17  2021 BCGitis as the primary manifestation of chronic granulomatous disease. CGD
18  2021 Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India. ESID, IEI, IUIS
19  2021 Clinical Application of Metagenomic Next-Generation Sequencing for Suspected Infections in Patients With Primary Immunodeficiency Disease. CMT, mNGS
20  2021 Combined immunodeficiency (CVID and CD4 lymphopenia) is associated with a high risk of malignancy among adults with primary immune deficiency CI, CID, CVID, OR
21  2021 Cost-minimization analysis of immunoglobulin treatment of primary immunodeficiency diseases in Spain. Ig, IVIG, SCIG
22  2021 Effect of Moderate Intensity Exercise on Infection Rates in Individuals with Primary Immunodeficiency Disease: A Preliminary Pilot Randomized Investigation. HRQoL
23  2021 Evaluation of miR-210 expression in common variable immunodeficiency: patients with unsolved genetic defect. CVID
24  2021 Experience of Autoimmune and autoinflammatory diseases in a Turkish pediatric cohort with primary immunodeficiencies. TNF
25  2021 Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases. Bu, Flu, HCT, Mel, RIC, SCID
26  2021 Infusion parameters of 20% subcutaneous immunoglobulin for primary immunodeficiency diseases among patient support program participants. ---
27  2021 Living with primary immunodeficiency disease during the Covid-19 pandemic. ---
28  2021 Multicenter Outcome of Hematopoietic Stem Cell Transplantation for Primary Immune Deficiency Disorders in India. HSCT
29  2021 Persistent COVID-19 lung infection in a child with a primary immunodeficiency. ---
30  2021 Poliovirus excretion among children with primary immune deficiency in Pakistan: a pilot surveillance study protocol. iVDPV, JMF, VDPV
31  2021 Population pharmacokinetic simulation of varied Immune Globulin Subcutaneous (Human), 20% solution (Ig20Gly) loading and maintenance dosing regimens in immunoglobulin-naïve patients with primary immunodeficiency diseases. Ig, IgG
32  2021 Primary immunodeficiencies: HSCT experiences of a single center in Turkey. HSCT, MRD, MUD, SCID
33  2021 Primary immunodeficiency and the microbiome. ---
34  2021 Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients. ALL, CNVs, OS, RFS
35  2021 Self-reported cognitive impairment in individuals with Primary Immunodeficiency Disease. ---
36  2021 The actin-regulatory protein Hem-1 is essential for alveolar macrophage development. AMs, Hem-1, LOF
37  2021 The cytokinesis-block micronucleus assay for cryopreserved whole blood. MN
38  2021 The Epidemiology and Clinical Presentations of Atopic Diseases in Selective IgA Deficiency. CVID, SIgAD
39  2021 The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS). APDS, PI3Kdelta
40  2021 The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4. WHIM
41  2021 TREC Screening for WHIM Syndrome. NBS, SCID, TREC
42  2021 Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients. ---
43  2021 Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India. HSCT, IVIG, WAS
44  2020 A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review. BCG, CGD, NCF2
45  2020 A Patient with CTLA-4 Haploinsufficiency with Multiple Autoimmune Presentations: A Case Report. CMV, IVIG, LTT, PHA
46  2020 Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease. CVID, LETM, LRBA
47  2020 Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience. AATD, COPD
48  2020 B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7. FISH, JMML, MDS
49  2020 Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation. BCG, HSCT, IRIS
50  2020 Deficiency of Wiskott-Aldrich syndrome protein has opposing effect on the pro-oncogenic pathway activation in nonmalignant versus malignant lymphocytes. WAS, WASp
51  2020 Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis protein (XIAP) variant: a case report. EBV-HLH, MMF, XIAP, XLP
52  2020 Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age. ILD
53  2020 Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis. AUC
54  2020 Fungal infections in primary immunodeficiency diseases. ---
55  2020 Gene analysis of seven cases of primary immunodeficiency. ---
56  2020 Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies. HRQoL
57  2020 Higher Incidence of B Cell Malignancies in Primary Immunodeficiencies: A Combination of Intrinsic Genomic Instability and Exocytosis Defects at the Immunological Synapse. ---
58  2020 Immune dysregulation syndrome with de novo CTLA4 germline mutation responsive to abatacept therapy. CTLA-4
59  2020 Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency. BMT, HHV-6, HLH, iciHHV-6
60  2020 Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration. ACTB, CID, KREC, NBS, PPV, SCID, TREC
61  2020 Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review. CGD, Nocar-DIP
62  2020 Outcomes after Haploidentical Stem Cell Transplantation with Post-Transplantation Cyclophosphamide in Patients with Primary Immunodeficiency Diseases. haplo-PTCy, HCT, SCID
63  2020 Patient experience with subcutaneous immunoglobulin 20%, Ig20Gly, for primary immunodeficiency diseases: a prespecified post hoc analysis of combined data from 2 pivotal trials. Ig, IVIG, LQI, SCIG, TSQM-9
64  2020 Peripheral Blood Lymphocyte Phenotype Differentiates Secondary Antibody Deficiency in Rheumatic Disease from Primary Antibody Deficiency. CVID
65  2020 Primary immunodeficiency disease: a cost-utility analysis comparing intravenous vs subcutaneous immunoglobulin replacement therapy in Australia. IVIG, QALYs, SCIG
66  2020 Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms. GI, TA
67  2020 Primary Immunodeficiency Disorders in children with Non-Cystic Fibrosis Bronchiectasis. BH, GERD, NCFB, PCD
68  2020 Safety of tunneled central venous catheters in pediatric hematopoietic stem cell recipients with severe primary immunodeficiency diseases. cdr, CR, HSCT, TCVCs
69  2020 T-cell lymphoma with a granulomatous lesion of the lungs after autologous hematopoietic stem cell transplantation for Epstein-Barr virus-positive diffuse large B-cell lymphoma: a unique rare case of metachronous B-cell and T-cell lymphoma. auto-HSCT, DLBCL, EBV, HSCT, PTLD
70  2020 Wiskott-Aldrich Syndrome in four male siblings from a consanguineous family from Lebanon. WAS, WIP
71  2020 [Clinical features of children with immunodeficiency and Mycobacterium tuberculosis infection]. IGRA, SID
72  2020 [Several Common Respiratory Viral Pathogens in Hematopoietic Stem Cell Transplantion Patients with Primary Immunodeficiency Disease]. RSV, SCID
73  2019 A Novel CD40L Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family. CD40L, WES
74  2019 Application of blood and immunodeficiency gene detection in the diagnosis of hemophagocytic lymphohistiocytosis patients. HLH, pHLH, sHLH
75  2019 Application of Flow Cytometry in Primary Immunodeficiencies: Experience From India. FPID, ICMR
76  2019 AWARENESS OF PRIMARY IMMUNODEFICIENCY DISEASES AMONG MEDICAL STUDENTS. ---
77  2019 Cost-utility analysis comparing hospital-based intravenous immunoglobulin with home-based subcutaneous immunoglobulin in patients with secondary immunodeficiency. IRT, IVIG, QALYs, SCIG, SID, SID
78  2019 Haploidentical Stem Cell Transplantation in Children with Benign Disorders: Improved Survival and Cost-Effective Care Over 15 Years from a Single Center in India. PTCy
79  2019 How I Manage Natural Killer Cell Deficiency. NK
80  2019 IRF and STAT Transcription Factors - From Basic Biology to Roles in Infection, Protective Immunity, and Primary Immunodeficiencies. CMC, HIES, HSE, IFN, IRF, MSMD, STAT
81  2019 MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report. Ig, IVIG, MHC, NK, PBMC, WES
82  2019 Mycobacteria-Specific T Cells May Be Expanded From Healthy Donors and Are Near Absent in Primary Immunodeficiency Disorders. MSTs
83  2019 Novel Developments in Primary Immunodeficiencies (PID)-a Rheumatological Perspective. IUIS
84  2019 Population pharmacokinetic modeling and simulation of immunoglobulin exposure with varying dosing intervals of subcutaneous immunoglobulin 20% (Ig20Gly) in patients with primary immunodeficiency diseases. Ig, PK
85  2019 Primary immunodeficiency disease: a cost-utility analysis comparing intravenous vs subcutaneous immunoglobulin replacement therapy in Australia. IVIG, QALYs, SCIG
86  2019 Primary immunodeficiency disease: a retrospective study of 112 Chinese children in a single tertiary care center. AEFI, allo-HSCT, HIGM, IUIC, OS, SCID
87  2019 Systemic lupus erythematosus and immunodeficiency. SLE
88  2019 Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy. ---
89  2019 The impact of combining educational program with the improving of infrastructure to diagnose on early detection of primary immunodeficiencies in children. ---
90  2019 The influence of clinical features mimicking primary immunodeficiency diseases (mPID) on children with Langerhans cell histiocytosis (LCH) - Four with mPID among 39 LCH children from one referral center during 18-year period. LCH, mPID, mPID
91  2019 Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease. IFN-gamma, MSMD
92  2019 TREC and KREC Levels as a Predictors of Lymphocyte Subpopulations Measured by Flow Cytometry. KREC, PCR, TREC
93  2019 [Application of copy number variation analysis based on raw data of next-generation sequencing in the molecular diagnosis for primary immunodeficiency disease]. CNV, HGMD, NGS, RAPID
94  2019 [Cancer predisposition in inherited bone marrow failure syndromes and primary immunodeficiency diseases]. IBMFS, MDS, MonoMAC
95  2019 [Inherited lymphoproliferative disorders]. LPDs
96  2018 Adoptive T Cell Therapy for Epstein-Barr Virus Complications in Patients With Primary Immunodeficiency Disorders. EBV, HSCT
97  2018 An evaluation of the budget impact of a new 20% subcutaneous immunoglobulin (Ig20Gly) for the management of primary immunodeficiency diseases in Switzerland. IVIG, SCIG
98  2018 Candidiasis of the Central Nervous System in Neonates and Children with Primary Immunodeficiencies. CNS
99  2018 Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India. HLA-DR, HSCT, MHC, Th, TRECs
100  2018 Complications Associated with Underweight Primary Immunodeficiency Patients: Prevalence and Associations Within the USIDNET Registry. BMI, NHANES, USIDNET