| Q38598814 | 14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency |
| Q42499236 | A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty |
| Q40879964 | A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer |
| Q50215511 | A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation |
| Q39933428 | A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome |
| Q33404827 | A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura |
| Q33500525 | A significant association of viral loads with corneal endothelial cell damage in cytomegalovirus anterior uveitis |
| Q112569433 | A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS |
| Q33404080 | Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia |
| Q50470731 | Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. |
| Q48614963 | Acute cerebellitis and concurrent encephalitis associated with parvovirus B19 infection. |
| Q53204710 | Alleviation of rheumatoid arthritis by cell-transducible methotrexate upon transcutaneous delivery. |
| Q50086611 | Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency |
| Q36577708 | Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. |
| Q48436860 | Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation |
| Q39214373 | Amelioration of neurodegenerative diseases by cell death-induced cytoplasmic delivery of humanin. |
| Q45332130 | An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus |
| Q46490209 | Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. |
| Q45004790 | Analysis of mutations and recombination activity in RAG-deficient patients. |
| Q52020089 | Analysis of serum granulysin in patients with hematopoietic stem-cell transplantation: its usefulness as a marker of graft-versus-host reaction. |
| Q81184239 | Analysis of serum soluble CD40 ligand (sCD40L) in the patients undergoing allogeneic stem cell transplantation: platelet is a major source of serum sCD40L |
| Q39184770 | Artemis-dependent DNA double-strand break formation at stalled replication forks |
| Q44128285 | Association of varicella zoster virus load in the aqueous humor with clinical manifestations of anterior uveitis in herpes zoster ophthalmicus and zoster sine herpete. |
| Q27919672 | Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. |
| Q40162626 | Ataxia-telangiectasia-mutated-dependent activation of Ku in human fibroblasts exposed to hydrogen peroxide |
| Q40356830 | Ataxia-telangiectasia: Immunodeficiency and survival |
| Q91542720 | Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency |
| Q34148939 | Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. |
| Q50044305 | Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features |
| Q42466089 | Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. |
| Q96827794 | Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations |
| Q46865156 | B-cell function after unrelated umbilical cord blood transplantation using a minimal-intensity conditioning regimen in patients with X-SCID. |
| Q33587953 | BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies |
| Q47608918 | Benzodiazepines induce sequelae in immature mice with inflammation-induced status epilepticus. |
| Q37468741 | Bilateral anterior granulomatous keratouveitis with sunset glow fundus in a patient with autoimmune polyglandular syndrome. |
| Q38628423 | Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations |
| Q41281408 | Cellular immunotherapy with ex vivo expanded cord blood T cells in a humanized mouse model of EBV-associated lymphoproliferative disease. |
| Q44608902 | Characterization of Epstein-Barr virus (EBV)-positive NK cells isolated from hydroa vacciniforme-like eruptions. |
| Q50421502 | Characterization of in vitro expanded virus-specific T cells toward adoptive immunotherapy against virus infection. |
| Q73326085 | Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID) |
| Q37454007 | Chemokine receptor expression and functional effects of chemokines on B cells: implication in the pathogenesis of rheumatoid arthritis. |
| Q54976834 | Clinical characteristics of adolescent cases with type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of INSR. |
| Q33349914 | Clinical course of patients with WASP gene mutations |
| Q41117493 | Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. |
| Q44750644 | Coagulopathy in a patient with X-linked hyper-IgM syndrome who developed Kaposi's sarcoma. |
| Q33441764 | Common Variable Immunodeficiency Caused by FANC Mutations |
| Q80799090 | Common variable immunodeficiency |
| Q58412772 | Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles |
| Q40533264 | Comparison of second transplantation and donor lymphocyte infusion for donor mixed chimerism after allogeneic stem cell transplantation for nonmalignant diseases |
| Q89024006 | Complications of Listeria meningitis in two immunocompetent children |
| Q59360806 | Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing |
| Q80119055 | Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen |
| Q89838869 | Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee |
| Q51849571 | Current research on chronic active Epstein-Barr virus infection in Japan. |
| Q80316325 | DNA damage check points prevent leukemic transformation in myelodysplastic syndrome |
| Q71755732 | Decreased alpha/beta heterodimer among CD8 molecules of peripheral blood T cells in Wiskott-Aldrich syndrome |
| Q33799606 | Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement |
| Q72758331 | Differences of LAK-activity and IL-2 responsiveness between alpha/beta and gamma/delta T cells which developed after thymus transplantation |
| Q88404650 | Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases |
| Q37544326 | EWSR1/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway. |
| Q72752331 | Early activation events induced by the staphylococcal superantigen toxic shock syndrome toxin-1 in human peripheral blood monocytes |
| Q44696198 | Early coagulation disorder after allogeneic stem cell transplantation is a strong prognostic factor for transplantation-related mortality, and intervention with recombinant human thrombomodulin improves the outcome: a single-center experience. |
| Q52096140 | Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion. |
| Q33441895 | Effect of eculizumab and recombinant human soluble thrombomodulin combination therapy in a 7-year-old girl with atypical hemolytic uremic syndrome due to anti-factor H autoantibodies |
| Q40059402 | Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients |
| Q44641781 | Endocrine complications in primary immunodeficiency diseases in Japan. |
| Q71613579 | Engagement of MHC class II molecules by staphylococcal superantigens activates src-type protein tyrosine kinases |
| Q54980713 | Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome. |
| Q67701197 | Enhancement by transforming growth factor-beta 1 (TGF-beta 1) of the proliferation of leukemic blast progenitors stimulated with IL-3 |
| Q44271332 | Epstein-Barr virus-associated posttransplant lymphoproliferative disorder after a cord blood stem cell transplantation presenting with pulmonary nodules. |
| Q43196417 | Ex vivo expanded cord blood CD4 T lymphocytes exhibit a distinct expression profile of cytokine-related genes from those of peripheral blood origin. |
| Q40398024 | Ex vivo-expanded donor CD4(+) lymphocyte infusion against relapsing neuroblastoma: A transient graft-versus-tumor effect. |
| Q37702932 | FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice |
| Q45353752 | Failure of mefloquine therapy in progressive multifocal leukoencephalopathy: report of two Japanese patients without human immunodeficiency virus infection |
| Q82914937 | Fatal degeneration of specialized cardiac muscle associated with chronic active Epstein-Barr virus infection |
| Q51830774 | Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG. |
| Q39419144 | Flow cytometry-based diagnosis of primary immunodeficiency diseases |
| Q35681880 | Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. |
| Q47726876 | Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation. |
| Q41733375 | Granulocyte colony-stimulating factor-dependent growth of an acute myeloblastic leukemia cell line |
| Q73097175 | HIV glycoprotein gp120 inhibits TCR-CD3-mediated activation of fyn and lck |
| Q48254230 | HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy. |
| Q53811174 | Haploidentical Bone Marrow Transplantation With Clofarabine and Busulfan Conditioning for a Child With Multiple Recurrent Acute Lymphoblastic Leukemia. |
| Q50424333 | Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders |
| Q50477130 | Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. |
| Q54108647 | Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3K Syndrome Type 1. |
| Q33418658 | Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene |
| Q46306423 | Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan |
| Q55024745 | Hematopoietic cell transplantation for myeloid/NK cell precursor acute leukemia in second remission. |
| Q44008449 | Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. |
| Q40782341 | Hematopoietic stem cell transplantation for adults with EBV-positive T- or NK-cell lymphoproliferative disorders: efficacy and predictive markers |
| Q47696839 | Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease |
| Q38732260 | Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations |
| Q39580500 | Hematopoietic stem cell-engrafted NOD/SCID/IL2Rgamma null mice develop human lymphoid systems and induce long-lasting HIV-1 infection with specific humoral immune responses |
| Q112579628 | Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency |
| Q34523567 | Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype |
| Q56872979 | High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations |
| Q89669872 | Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification |
| Q92742012 | Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee |
| Q28272650 | Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity |
| Q46960468 | Identification of human herpesvirus 6 in a patient with severe unilateral panuveitis. |
| Q54472205 | Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. |
| Q24650876 | Immunologically silent cancer clone transmission from mother to offspring |
| Q34075304 | Immunosuppressive effects of tautomycetin in vivo and in vitro via T cell-specific apoptosis induction |
| Q39400516 | Impaired cell adhesion, apoptosis, and signaling in WASP gene-disrupted Nalm-6 pre-B cells and recovery of cell adhesion using a transducible form of WASp. |
| Q85419181 | Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy |
| Q46948758 | International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. |
| Q54242693 | Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy. |
| Q44587967 | Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation. |
| Q59067213 | IκBζ regulates TH17 development by cooperating with ROR nuclear receptors |
| Q33272400 | Knockdown of XAB2 enhances all-trans retinoic acid-induced cellular differentiation in all-trans retinoic acid-sensitive and -resistant cancer cells. |
| Q73065685 | Ku in the cytoplasm associates with CD40 in human B cells and translocates into the nucleus following incubation with IL-4 and anti-CD40 mAb |
| Q37075266 | Ku, Artemis, and ataxia-telangiectasia-mutated: signalling networks in DNA damage |
| Q50587488 | Long-term complete remission by infusion of ex vivo-expanded donor-derived CD4(+) lymphocytes for treating an early relapse of Hodgkin lymphoma after cord blood transplantation. |
| Q47280271 | Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients. |
| Q39426613 | Lycopene inhibits Helicobacter pylori-induced ATM/ATR-dependent DNA damage response in gastric epithelial AGS cells. |
| Q38356706 | Macrophage Activation Syndrome in Patients with Systemic Juvenile Idiopathic Arthritis under Treatment with Tocilizumab. |
| Q47987162 | Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy |
| Q40166610 | Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency |
| Q42216350 | Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency |
| Q47865085 | Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases |
| Q50435415 | Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases. |
| Q41931646 | Multilateral Functional Alterations of Human Neutrophils in Sepsis: From the Point of Diagnosis to the Seventh Day. |
| Q50607393 | Mutations in Bruton's tyrosine kinase impair IgA responses. |
| Q89943251 | Myhre syndrome: Age-dependent progressive phenotype |
| Q40387681 | NADPH oxidase and apoptosis in cerulein-stimulated pancreatic acinar AR42J cells. |
| Q51408108 | Nationwide survey of patients with primary immunodeficiency diseases in Japan. |
| Q35869758 | Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study |
| Q41927776 | Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency |
| Q51534321 | Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. |
| Q34058148 | Novel mouse xenograft models reveal a critical role of CD4+ T cells in the proliferation of EBV-infected T and NK cells |
| Q36639621 | Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. |
| Q79219059 | Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan |
| Q42218579 | Palivizumab use in Japanese infants and children with immunocompromised conditions. |
| Q52095934 | Pancytopenia presenting with monosomy 7 which disappeared after immunosuppressive therapy. |
| Q49233029 | Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age. |
| Q49380474 | Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review |
| Q39952632 | Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. |
| Q50498138 | Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. |
| Q87418068 | Pneumothorax in patients with severe combined immunodeficiency |
| Q47636752 | Population Pharmacokinetics of Intravenous Busulfan in Japanese Pediatric Patients With Primary Immunodeficiency Diseases. |
| Q51735726 | Preclinical evaluation of NUDT15-guided thiopurine therapy and its effects on toxicity and anti-leukemic efficacy. |
| Q24684237 | Preferential expansion of Vgamma9-JgammaP/Vdelta2-Jdelta3 gammadelta T cells in nasal T-cell lymphoma and chronic active Epstein-Barr virus infection |
| Q50801008 | Process for immune defect and chromosomal translocation during early thymocyte development lacking ATM. |
| Q33346640 | Prognostic factors for chronic active Epstein-Barr virus infection |
| Q51293283 | Prolonged neutropenia due to antihuman neutrophil antigen 2 (CD177) antibody after bone marrow transplantation. |
| Q85219316 | Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome |
| Q36247163 | Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. |
| Q73299726 | Proposed standard for human blood vitamin B1 value using HPLC. The Committee for Vitamin Laboratory Standards, Japan |
| Q39676033 | Qualitative and quantitative differences in the intensity of Fas-mediated intracellular signals determine life and death in T cells |
| Q45012647 | Qualitatively differential regulation of T cell activation and apoptosis by T cell receptor zeta chain ITAMs and their tyrosine residues. |
| Q45387895 | Quantitative PCR for the detection of genomic DNA of Epstein-Barr virus in ocular fluids of patients with uveitis. |
| Q41450289 | RAG1 deficiency may present clinically as selective IgA deficiency |
| Q34831560 | RORγt-specific transcriptional interactomic inhibition suppresses autoimmunity associated with TH17 cells |
| Q81654416 | Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation |
| Q39333618 | Recent advances in the study of immunodeficiency and DNA damage response |
| Q87251886 | Recurrent mitral valve regurgitation with neutrophil infiltration in a patient with multiple aseptic abscesses |
| Q48954179 | Report of the international conference on regulatory endeavors towards the sound development of human cell therapy products |
| Q38220269 | Risks and prevention of severe RS virus infection among children with immunodeficiency and Down's syndrome. |
| Q33407684 | Secondary immune thrombocytopenia associated with primary immunodeficiency |
| Q40118203 | Severe combined immunodeficiency: From its discovery to the perspective. |
| Q24680231 | Signal transduction via CD40 involves activation of lyn kinase and phosphatidylinositol-3-kinase, and phosphorylation of phospholipase C gamma 2 |
| Q37644982 | Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis |
| Q40085722 | Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency |
| Q89462334 | Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity |
| Q49013581 | Steroid-responsive Status Epilepticus Caused by Human Parvovirus B19 Encephalitis |
| Q33433599 | Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome |
| Q82123393 | Successful allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease with inflammatory complications and severe infection |
| Q82412177 | Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism |
| Q45101989 | Successful engraftment and decrease of cytomegalovirus load after cord blood stem cell transplantation in a patient with DiGeorge syndrome. |
| Q42110100 | Successful treatment of cytomegalovirus enteritis after unrelated allogeneic stem cell transplantation by the infusion of ex vivo-expanded CD4+ lymphocytes derived from the recipient's peripheral blood donor cells. |
| Q49956549 | Survey of the awareness of adult rheumatologists regarding transitional care for patients with juvenile idiopathic arthritis in Japan |
| Q35586189 | TALEN-Mediated Gene Disruption on Y Chromosome Reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis |
| Q50180656 | Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome. |
| Q46138987 | The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies |
| Q38879490 | The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. |
| Q40832724 | The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency |
| Q79370518 | The first infant case with hepatosplenic gammadelta T-cell lymphoma after acute disseminated encephalomyelitis (ADEM)-like exacerbation |
| Q125872074 | The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants |
| Q24306260 | The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils |
| Q112555344 | The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies |
| Q37235737 | Tocilizumab in systemic juvenile idiopathic arthritis in a real-world clinical setting: results from 1 year of postmarketing surveillance follow-up of 417 patients in Japan |
| Q52716958 | Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus. |
| Q33651871 | Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus |
| Q51846660 | Transducible form of p47phox and p67phox compensate for defective NADPH oxidase activity in neutrophils of patients with chronic granulomatous disease. |
| Q54173054 | Transient abnormal myelopoiesis in non-Down syndrome neonate. |
| Q46124702 | Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids |
| Q41713463 | Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. |
| Q48949554 | Two young stroke patients associated with regular intravenous immunoglobulin (IVIg) therapy |
| Q49561510 | Type 1 Diabetes Mellitus Associated with Activated Phosphoinositide-3-kinase Delta Syndrome, Type 2. |
| Q28201267 | Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase |
| Q46711436 | Tyrosine kinases Btk and Tec regulate osteoclast differentiation by linking RANK and ITAM signals. |
| Q42263485 | Use of a comprehensive polymerase chain reaction system for diagnosis of ocular infectious diseases. |
| Q33378265 | Vesical varices and telangiectasias in a patient with ataxia telangiectasia |
| Q33330796 | WASP is involved in proliferation and differentiation of human haemopoietic progenitors in vitro. |
| Q50678218 | Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. |
| Q33420065 | Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 6. |
| Q33403586 | Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia |
| Q33388332 | X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options |
| Q51809745 | [Common variable immunodeficiency: an update on etiology, pathophysiology, and classification]. |