| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Kojo S J Elenitoba-Johnson | |
| Megan S Lim | |||
| P2860 | cites work | The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM | Q22003958 |
| Linkage of ATM to cell cycle regulation by the Chk2 protein kinase | Q22008502 | ||
| Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II | Q22010404 | ||
| An essential role for BLNK in human B cell development | Q22010875 | ||
| Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene | Q22011158 | ||
| ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway | Q22253899 | ||
| Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2) | Q24290325 | ||
| Genetic variation in ICF syndrome: evidence for genetic heterogeneity | Q24290581 | ||
| The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins | Q24296289 | ||
| Cloning of a 67-kD neutrophil oxidase factor with similarity to a noncatalytic region of p60c-src | Q24300397 | ||
| Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease | Q24307950 | ||
| Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease | Q24308107 | ||
| The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor | Q24311786 | ||
| Expression of immunoglobulin genes in common variable immunodeficiency | Q67907009 | ||
| Deficiency of reduced nicotinamide-adenine dinucleotide oxidase in chronic granulomatous disease | Q68730854 | ||
| Deoxy GTP accumulates in thymocytes, but not in T or B lymphocytes in simulated PNP deficiency | Q69264994 | ||
| [The accelerated phase of Chediak-Higashi syndrome] | Q69571238 | ||
| Gm allotypes in IgA deficiency | Q69854632 | ||
| Familial hemophagocytic lymphohistiocytosis | Q70290216 | ||
| The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets | Q70522499 | ||
| Abnormal B cell differentiation and variable increased T cell suppression in immunodeficiency with hyper-IgM | Q70527965 | ||
| Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation | Q71702200 | ||
| The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome | Q72068543 | ||
| Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency | Q72108825 | ||
| Genetic analysis of the human CD3-epsilon gene in a T cell receptor/CD3 immunodeficiency | Q72385385 | ||
| Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome | Q72577848 | ||
| Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan | Q72664523 | ||
| Cellular basis of hyper IgM immunodeficiency | Q72777650 | ||
| Clonal expansion of alphabeta-T lymphocytes with inverted Jbeta1 bias in familial hemophagocytic lymphohistiocytosis | Q73023320 | ||
| Prospective analysis suggests susceptibility genes for deficiencies of IgA and several other immunoglobulins on the [HLA-B8, SC01, DR3] conserved extended haplotype | Q73085100 | ||
| Lymphoid malignancy as a presenting sign of ataxia-telangiectasia | Q73092659 | ||
| Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies | Q73128920 | ||
| Adenosine deaminase deficiency in adults | Q73235525 | ||
| Correction of the hyper-IgM syndrome after liver and bone marrow transplantation | Q73402167 | ||
| Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease | Q73505031 | ||
| Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients | Q73664041 | ||
| The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response | Q24316950 | ||
| A single ataxia telangiectasia gene with a product similar to PI-3 kinase | Q24323579 | ||
| Partial V(D)J recombination activity leads to Omenn syndrome | Q24336454 | ||
| DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product | Q24337388 | ||
| Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis | Q24536183 | ||
| Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. | Q24536337 | ||
| The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome | Q24647294 | ||
| Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia | Q24652812 | ||
| X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells | Q24676168 | ||
| Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation | Q24678428 | ||
| Homozygous human TAP peptide transporter mutation in HLA class I deficiency | Q28118298 | ||
| Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder | Q28138040 | ||
| Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism | Q28138371 | ||
| Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies) | Q28140427 | ||
| Primary immunodeficiency mutation databases | Q28141578 | ||
| Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease | Q28143064 | ||
| Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency | Q28144652 | ||
| Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products | Q28145751 | ||
| The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization | Q28198756 | ||
| Clinical implications of mutations of neutrophil elastase in congenital and cyclic neutropenia | Q28201433 | ||
| Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia | Q28202460 | ||
| DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 | Q28204282 | ||
| Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient | Q28206401 | ||
| Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways | Q28207549 | ||
| Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon) | Q28213146 | ||
| Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy | Q28215190 | ||
| RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction | Q28216207 | ||
| Job's Syndrome. Recurrent, "cold", staphylococcal abscesses | Q28237376 | ||
| Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID | Q28241595 | ||
| Agammaglobulinemia | Q28244575 | ||
| Structure and function of leukocyte integrins | Q28249413 | ||
| Structural and functional basis for JAK3-deficient severe combined immunodeficiency | Q28253330 | ||
| A case of X-linked agammaglobulinemia diagnosed in adulthood | Q73710479 | ||
| Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway | Q73850164 | ||
| Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome | Q73851087 | ||
| Primary immunodeficiency diseases in adults | Q74019967 | ||
| Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox) | Q74055138 | ||
| Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome | Q74420409 | ||
| Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome | Q74518058 | ||
| A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination | Q74541410 | ||
| Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients | Q74631078 | ||
| X-linked lymphoproliferative disease: three atypical cases | Q77067621 | ||
| Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia | Q77231188 | ||
| Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers | Q77361936 | ||
| A new candidate region for the positional cloning of the XLP gene | Q77510810 | ||
| Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH) | Q77544807 | ||
| Hypocalcemic tetany as an early sign of DiGeorge syndrome in an adult woman | Q77616592 | ||
| Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome | Q77667499 | ||
| Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease | Q77678228 | ||
| T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly | Q77720696 | ||
| CD95 expression and function on lymphocyte subpopulations in common variable immunodeficiency (CVID); related to increased apoptosis | Q77995158 | ||
| Integrins--the glue of life | Q78019244 | ||
| Perforin gene defects in familial hemophagocytic lymphohistiocytosis. | Q33882431 | ||
| Activated B cells from patients with common variable immunodeficiency proliferate and synthesize immunoglobulin | Q33901807 | ||
| Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype | Q33907756 | ||
| Interferon-gamma and interleukin-12 pathway defects and human disease | Q33915224 | ||
| X-linked immunodeficiency with hyper-IgM (XHIM). | Q33938151 | ||
| Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. | Q33947934 | ||
| Mutations in SBDS are associated with Shwachman-Diamond syndrome | Q33963285 | ||
| Structure-function effects in primary immunodeficiencies. | Q34023207 | ||
| Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model | Q34036681 | ||
| X-linked agammaglobulinemia: an analysis of 96 patients | Q34043572 | ||
| The primary immunodeficiencies. (2). | Q34055709 | ||
| Immunodeficiency diseases caused by defects in phagocytes | Q34098928 | ||
| X-linked lymphoproliferative syndrome | Q34106954 | ||
| The cellular phenotype conditions Btk for cell survival or apoptosis signaling. | Q34159340 | ||
| Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. | Q34169664 | ||
| The autoimmune lymphoproliferative syndrome. A disorder of human lymphocyte apoptosis | Q34195490 | ||
| Prenatal diagnosis of the 22q11.2 deletion syndrome | Q34242714 | ||
| Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. | Q34288951 | ||
| The primary immunodeficiencies | Q34300415 | ||
| Regulation of MHC class II genes: lessons from a disease | Q34389691 | ||
| Genetic linkage of hyper-IgE syndrome to chromosome 4. | Q34390210 | ||
| Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene | Q34431158 | ||
| MHC class II deficiency: a disease of gene regulation | Q34435388 | ||
| The immunologic workup of the child suspected of immunodeficiency | Q34454572 | ||
| Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation | Q34456767 | ||
| Abnormalities of chemotactic lymphokine synthesis and mononuclear leukocyte chemotaxis in Wiskott-Aldrich syndrome | Q34465607 | ||
| Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor | Q34476652 | ||
| ATM mutations in sporadic lymphoid tumours. | Q34980360 | ||
| Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma | Q34983013 | ||
| Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13. | Q35194546 | ||
| Lymphocyte surface phenotype in common variable immunodeficiency | Q35572414 | ||
| Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency | Q35603773 | ||
| Evidence for defective transmembrane signaling in B cells from patients with Wiskott-Aldrich syndrome | Q35606848 | ||
| Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2 | Q35768903 | ||
| In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction | Q36366827 | ||
| IgA deficiency | Q37722710 | ||
| Regulation of major histocompatibility complex class-II genes: X, Y and other letters of the alphabet | Q37813554 | ||
| DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes | Q38294012 | ||
| Human leukocyte and porcine pancreatic elastase: X-ray crystal structures, mechanism, substrate specificity, and mechanism-based inhibitors | Q38630158 | ||
| Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity | Q39327898 | ||
| Neutrophil specific granule deficiency | Q39819532 | ||
| The Chediak-Higashi syndrome: studies in four patients and a review of the literature | Q40018532 | ||
| The Primary Immunodeficiencies | Q40117501 | ||
| Interferon-gamma in the management of infectious diseases | Q40436605 | ||
| Nijmegen Breakage syndrome: a progress report | Q40580181 | ||
| Bruton's tyrosine kinase is a key regulator in B-cell development | Q40694860 | ||
| Hypercytokinemia in familial hemophagocytic lymphohistiocytosis | Q40741786 | ||
| Flow cytometry analysis of adenosine deaminase (ADA) expression: a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy. | Q40748825 | ||
| Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency | Q40816848 | ||
| A deletion in the gene encoding the CD45 antigen in a patient with SCID. | Q40833886 | ||
| NIH conference. New insights into common variable immunodeficiency | Q40890768 | ||
| A breakpoint map of recurrent chromosomal rearrangements in human neoplasia | Q40899125 | ||
| Leukemia and lymphoma in ataxia telangiectasia | Q40941950 | ||
| Pathophysiology and treatment of severe chronic neutropenia | Q40983428 | ||
| Defects in Wiskott-Aldrich syndrome blood cells | Q40992717 | ||
| Diagnosis and management of chronic neutropenia during childhood | Q40997994 | ||
| Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization | Q41113644 | ||
| Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. | Q41134551 | ||
| RAG mutations in human B cell-negative SCID. | Q41159572 | ||
| Major histocompatibility complex class II deficiency: a clinical review | Q41333663 | ||
| Regulation of Zap-70 by Src family tyrosine protein kinases in an antigen-specific T-cell line | Q41370265 | ||
| Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes | Q41445185 | ||
| The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes | Q41512888 | ||
| Chronic Neutropenia | Q41513257 | ||
| Common variable immunodeficiency: how many diseases? | Q41546330 | ||
| Severe chronic neutropenia: pathophysiology and therapy | Q41623864 | ||
| Control of late neutrophil-specific gene expression: insights into regulation of myeloid differentiation | Q41623885 | ||
| Neutrophil adhesion and the therapy of inflammation. | Q41623897 | ||
| Primary immunodeficiency diseases | Q41660152 | ||
| Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis | Q41751139 | ||
| Nijmegen Breakage Syndrome: a progress report | Q41929379 | ||
| Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome | Q42642928 | ||
| Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase | Q28254719 | ||
| A syndrome associating partial albinism and immunodeficiency | Q28278097 | ||
| A new chromosomal instability disorder: the Nijmegen breakage syndrome | Q28281429 | ||
| Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene | Q28285297 | ||
| Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID) | Q28296501 | ||
| Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection | Q28299370 | ||
| Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis | Q28301479 | ||
| Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling | Q28343421 | ||
| Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome | Q28505391 | ||
| TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome | Q28512803 | ||
| Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice | Q28590225 | ||
| Enhanced phosphorylation of p53 by ATM in response to DNA damage | Q28609838 | ||
| Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks | Q28609912 | ||
| Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome | Q29620423 | ||
| Retrovirus-mediated WASP gene transfer corrects Wiskott-Aldrich syndrome T-cell dysfunction | Q30165353 | ||
| Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia | Q30195143 | ||
| Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes | Q31883583 | ||
| Molecular basis for Rac2 regulation of phagocyte NADPH oxidase | Q32063730 | ||
| WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction | Q33330680 | ||
| Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia | Q33336279 | ||
| Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations | Q33340605 | ||
| Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia | Q33341311 | ||
| Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. | Q33350607 | ||
| Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity | Q33461729 | ||
| Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene | Q33489707 | ||
| A multiinstitutional survey of the Wiskott-Aldrich syndrome. | Q33491474 | ||
| T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses. | Q33494184 | ||
| Haematological abnormalities in Shwachman-Diamond syndrome | Q33496617 | ||
| Registries of immunodeficiency patients and mutations | Q33500567 | ||
| Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models. | Q33503837 | ||
| HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. | Q33843768 | ||
| Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome | Q33849472 | ||
| Mutations in Igalpha (CD79a) result in a complete block in B-cell development | Q33859540 | ||
| Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. | Q33882202 | ||
| Rab27a is required for regulated secretion in cytotoxic T lymphocytes | Q42947316 | ||
| Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. | Q43416371 | ||
| Abnormalities of lymphokine gene expression in patients with common variable immunodeficiency. | Q43536448 | ||
| Defect of lck in a patient with common variable immunodeficiency | Q43606490 | ||
| Cytokine and chemokine dysregulation in hyper-IgE syndrome | Q43646251 | ||
| Severe staphylococcal disease associated with allergic manifestations, hyperimmunoglobulinemia E, and defective neutrophil chemotaxis | Q43739480 | ||
| Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. | Q43747131 | ||
| Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease | Q43791985 | ||
| Genesis of progressive T-cell deficiency owing to a single missense mutation in the common gamma chain gene | Q43922454 | ||
| Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1. | Q43938321 | ||
| Absence of memory B cells in patients with common variable immunodeficiency | Q43978359 | ||
| The X-linked lymphoproliferative disease gene product SAP is expressed in activated T and NK cells. | Q43991331 | ||
| A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4. | Q44033932 | ||
| Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity | Q44041850 | ||
| Immune function in patients with Shwachman-Diamond syndrome | Q44400083 | ||
| Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis | Q44455328 | ||
| Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). | Q44540762 | ||
| IgA immunodeficiency leads to inadequate Th cell priming and increased susceptibility to influenza virus infection | Q45739303 | ||
| Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy | Q45889822 | ||
| Identification of the murine beige gene by YAC complementation and positional cloning | Q48062836 | ||
| Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect | Q49167867 | ||
| Dual roles of ATM in the cellular response to radiation and in cell growth control. | Q52521591 | ||
| Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. | Q52827044 | ||
| Effect of chemotherapy and stem cell transplantation on T lymphocyte clones in familial haemophagocytic lymphohistiocytosis. | Q52931829 | ||
| Tumor necrosis factor genomic polymorphism in Spanish IGA deficiency patients. | Q53921093 | ||
| Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. | Q55067333 | ||
| Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome | Q55670225 | ||
| Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system | Q55670642 | ||
| Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia | Q55670699 | ||
| Mutations in the mu heavy-chain gene in patients with agammaglobulinemia | Q55670900 | ||
| Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome | Q55670920 | ||
| Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia | Q56765604 | ||
| 4 Primary immunodeficiency mutation databases | Q56804104 | ||
| Clinical spectrum of X-linked hyper-IgM syndrome | Q57075392 | ||
| V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations | Q57173925 | ||
| Familial Reticuloendotheliosis with Eosinophilia | Q57268307 | ||
| Registries of immunodeficiency patients and mutations | Q58533435 | ||
| Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis | Q58800492 | ||
| Growing Y-junction carbon nanotubes | Q59048574 | ||
| Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity | Q59066708 | ||
| Prenatal diagnosis of JAK3 deficient SCID | Q61172225 | ||
| Gene therapy of severe combined immunodeficiencies | Q61714673 | ||
| Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors | Q61714686 | ||
| Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism | Q62300203 | ||
| Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency | Q66972916 | ||
| Abnormal neutrophil maturation in a neutrophil defect with morphologic abnormality and impaired function | Q67463315 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | pathology | Q7208 |
| P304 | page(s) | 59-83 | |
| P577 | publication date | 2004-05-01 | |
| P1433 | published in | The Journal of Molecular Diagnostics | Q7743603 |
| P1476 | title | The molecular pathology of primary immunodeficiencies | |
| P478 | volume | 6 |
| Q55443001 | Analysis of differences between total IgG and sum of the IgG subclasses in children with suspected immunodeficiency - indication of determinants. |
| Q42251130 | Clinical and genetic features of 5 Chinese patients with X-linked lymphoproliferative syndrome |
| Q39607271 | Comparison of American and European practices in the management of patients with primary immunodeficiencies. |
| Q89613083 | Correlations Among Subcutaneous Immunoglobulin Dosage, Immunoglobulin G Serum Pre-infusional Levels and Body Mass Index in Primary Antibody Deficiency Patients: A Pooled Analysis from the SHIFT/IBIS Studies |
| Q33610319 | Diminished plasma levels of common γ-chain cytokines in pulmonary tuberculosis and reversal following treatment |
| Q33610367 | Disease burden for patients with primary immunodeficiency diseases identified at reference hospitals in Guanajuato, Mexico |
| Q38372260 | Evidence-based strategies to reduce intravenous immunoglobulin-induced headaches |
| Q36740401 | Family Physician Perspectives on Primary Immunodeficiency Diseases |
| Q57289938 | Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis |
| Q26740484 | Genetics and immunity in the era of single-cell genomics |
| Q38002601 | Home therapy with subcutaneous immunoglobulins for patients with primary immunodeficiency diseases |
| Q38186778 | Is murine gammaherpesvirus-68 (MHV-68) a suitable immunotoxicological model for examining immunomodulatory drug-associated viral recrudescence? |
| Q38180715 | Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example. |
| Q33395963 | Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? |
| Q27024628 | Neutrophils in innate host defense against Staphylococcus aureus infections |
| Q91636334 | Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies |
| Q36654341 | Novel purine nucleoside analogues for T-cell-lineage acute lymphoblastic leukaemia and lymphoma |
| Q37246366 | Phenotypic and Functional Comparison of Class Switch Recombination Deficiencies with a Subgroup of Common Variable Immunodeficiencies |
| Q37207168 | Possible primary immunodeficiency presenting with gastrointestinal symptoms: Case report and minireview |
| Q42153726 | Primary immunodeficiency diseases at reference and high-specialty hospitals in the state of Guanajuato, Mexico |
| Q34126295 | Primary immunodeficiency in children: report of seven years study. |
| Q38060734 | Targeting the MHC Class II antigen presentation pathway in cancer immunotherapy |
| Q36091999 | Utility of next generation sequencing in clinical primary immunodeficiencies |
| Q30987233 | Validity of Primary Immunodeficiency Disease Diagnoses in United States Medicaid Data |
| Q37810323 | X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma. |
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