Immunodeficiency (Inherited)

Revisiting human primary immunodeficiencies.
[18544117] J Intern Med 264(2): 115-27 (2008)

Lymphocyte purine metabolism -- significance of 5'-nucleotidase deficiency: a review.
[233249] J R Soc Med 72(4): 266-9 (1979)

The skin in primary immunodeficiency disorders.
[16280293] Eur J Dermatol 15(6): 425-32 (2005)

Infections in patients with inherited defects in phagocytic function.
[14557288] Clin Microbiol Rev 16(4): 597-621 (2003)

Primary immunodeficiencies and susceptibility to parasitic infections.
[17042928] Parasite Immunol 28(11): 567-75 (2006)

Immune deficiencies and parasitic diseases.
[17042926] Parasite Immunol 28(11): 545-7 (2006)

Diagnosis and management of immunodeficiencies in adults by allergologists.
[20635783] J Investig Allergol Clin Immunol 20(3): 185-94 (2010)

Immunoglobulin E in primary immunodeficiency diseases.
[12358995] Allergy 57(11): 995-1007 (2002)

Immunity to microbes: lessons from primary immunodeficiencies.
[17283094] Infect Immun 75(4): 1545-55 (2007)

Primary immunodeficiencies: "new" disease in an old country.
[20003815] Cell Mol Immunol 6(6): 397-406 (2009)

Current perspectives on primary immunodeficiency diseases.
[17162365] Clin Dev Immunol 13(2-4): 223-59 (2006)

Human primary immunodeficiency diseases.
[18093537] Immunity 27(6): 835-45 (2007)

Human tyk2 kinase deficiency: another primary immunodeficiency syndrome.
[17098200] Immunity 25(5): 695-7 (2006)

Gene therapy for human severe combined immunodeficiencies.
[11485732] Immunity 15(1): 1-4 (2001)

Leukocyte trafficking in primary immunodeficiencies.
[19088178] J Leukoc Biol 85(3): 335-43 (2009)

Leukocyte circulation: one-way or round-trip? Lessons from primary immunodeficiency patients.
[15075352] J Leukoc Biol 76(1): 1-6 (2004)

Primary immunodeficiency diseases: natural mutant models for the study of the immune system.
[11940230] Scand J Immunol 55(3): 238-41 (2002)

Structure-function effects in primary immunodeficiencies.
[10972897] Scand J Immunol 52(3): 226-32 (2000)

Clinical immunology review series: An approach to the management of pulmonary disease in primary antibody deficiency.
[19128358] Clin Exp Immunol 155(2): 147-55 (2009)

Clinical immunology review series: an approach to the patient with recurrent infections in childhood.
[18373701] Clin Exp Immunol 152(3): 389-96 (2008)

Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.
[18190602] Clin Exp Immunol 151(3): 448-54 (2008)

Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review.
[17565605] Clin Exp Immunol 149(3): 410-23 (2007)

The European internet-based patient and research database for primary immunodeficiencies: results 2004-06.
[17223972] Clin Exp Immunol 147(2): 306-12 (2007)

Primary immune deficiencies--improving our understanding of their role in immunological disease.
[15606607] Clin Exp Immunol 139(1): 11-2 (2005)

Immunodeficiency associated with DNA repair defects.
[10886231] Clin Exp Immunol 121(1): 1-7 (2000)

X-linked immunodeficiency with hyper-IgM (XHIM).
[10844515] Clin Exp Immunol 120(3): 399-405 (2000)

Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies.
[10540200] Clin Exp Immunol 118 Suppl 1(-): 1-28 (1999)

Primary immunodeficiency diseases. Report of a WHO Scientific Group.
[7813117] Clin Exp Immunol 99 Suppl 1(-): 1-24 (1995)

Genetics of human X-linked immunodeficiency diseases.
[1863997] Clin Exp Immunol 85(2): 182-92 (1991)

Selective IgG subclass deficiency: quantification and clinical relevance.
[2204502] Clin Exp Immunol 81(3): 357-67 (1990)

Metabolic defects in immunodeficiency diseases.
[6290113] Clin Exp Immunol 49(1): 1-10 (1982)

Progress and prospects: gene therapy for inherited immunodeficiencies.
[19776764] Gene Ther 16(11): 1285-91 (2009)

Human purine metabolism: some recent advances and relationships with immunodeficiency.
[6311120] Ann Rheum Dis 42 Suppl 1(-): 8-11 (1983)

Oral manifestations of primary immunological diseases.
[10715926] J Am Dent Assoc 131(3): 345-56 (2000)

Treatment of immune deficiency.
[4564039] Am J Pathol 69(3): 529-36 (1972)

Circulating B-cells in patients with immunodeficiency.
[4564038] Am J Pathol 69(3): 513-28 (1972)

Recent studies on the immunodeficiencies of man.
[4564037] Am J Pathol 69(3): 484-90 (1972)

Prenatal diagnosis and carrier detection in primary immunodeficiency disorders.
[3046509] Arch Dis Child 63(7 Spec No): 758-64 (1988)

Clinical significance of IgG subclass deficiency.
[3046504] Arch Dis Child 63(7): 771-3 (1988)

Human genetics of infectious diseases: between proof of principle and paradigm.
[19729848] J Clin Invest 119(9): 2506-14 (2009)

Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways.
[12021239] J Clin Invest 109(10): 1261-9 (2002)

Primary antibody deficiency and diagnostic delay.
[15858130] J Clin Pathol 58(5): 546-7 (2005)

Suppression of the immune response.
[4106431] J Med Genet 8(3): 321-40 (1971)

Genetics of immunity deficiency syndromes.
[4925725] J Med Genet 7(4): 310-4 (1970)

The molecular pathology of primary immunodeficiencies.
[15096561] J Mol Diagn 6(2): 59-83 (2004)

Thoracic manifestations of primary humoral immunodeficiency: a comprehensive review.
[19926753] Radiographics 29(7): 1909-20 (2009)

Primary immunodeficiency diseases in Latin America: proceedings of the Second Latin American Society for Immunodeficiencies (LASID) Advisory Board.
[21345576] Allergol Immunopathol (Madr) 39(2): 106-10 (2011)

Update on the treatment of primary immunodeficiencies.
[17923072] Allergol Immunopathol (Madr) 35(5): 184-92 (2007)

The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.
[20529312] Allergy Asthma Clin Immunol 6(1): 12 (2010)

Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency.
[20403930] Pediatrics 125(5): e1226-35 (2010)

Ten years of gene therapy for primary immune deficiencies.
[20008254] Hematology Am Soc Hematol Educ Program -(-): 682-9 (2009)

Primary immunodeficiencies (PIDs) presenting with cytopenias.
[20008192] Hematology Am Soc Hematol Educ Program -(-): 139-43 (2009)

Primary immunodeficiency: complex genetic disorders?
[17259244] Clin Chem 53(2): 159-60 (2007)

Gene therapy for human severe combined immunodeficiencies.
[11802313] Isr Med Assoc J 4(1): 51-4 (2002)

Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.
[11875988] Isr Med Assoc J 4(2): 131-5 (2002)

Primary immunodeficiency diseases: relevant aspects for pulmonologists.
[19918634] J Bras Pneumol 35(10): 1008-17 (2009)

The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008.
[19630863] Clin Exp Immunol 157 Suppl 1(-): 3-11 (2009)

Intrinsic defect of the immune system in children with Down syndrome: a review.
[19250275] Clin Exp Immunol 156(2): 189-93 (2009)

Inflammatory bowel diseases in patients with adaptive and complement immunodeficiency disorders.
[20848466] Inflamm Bowel Dis 16(11): 1984-92 (2010)

Gastrointestinal manifestations in primary immune disorders.
[19637385] Inflamm Bowel Dis 16(4): 703-11 (2010)

Recent advances in gene therapy for severe congenital immunodeficiency diseases.
[18536577] Curr Opin Hematol 15(4): 375-80 (2008)

WHIM syndrome: congenital immune deficiency disease.
[19057201] Curr Opin Hematol 16(1): 20-6 (2009)

Educational paper: Primary immunodeficiencies in children: a diagnostic challenge.
[21170549] Eur J Pediatr 170(2): 169-77 (2011)

Educational paper: syndromic forms of primary immunodeficiency.
[21337117] Eur J Pediatr 170(3): 295-308 (2011)

Gastrointestinal and hepatic manifestations of primary immune deficiency diseases.
[20339173] Saudi J Gastroenterol 16(2): 66-74 (2010)

Osteoarticular infectious complications in patients with primary immunodeficiencies.
[18525364] Curr Opin Rheumatol 20(4): 480-5 (2008)

Rheumatologic and autoimmune manifestations of primary immunodeficiency disorders.
[19077721] Curr Opin Rheumatol 21(1): 78-84 (2009)

Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency.
[20816973] J Immunol Methods 362(1-2): 1-9 (2010)

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
[20004776] J Allergy Clin Immunol 124(6): 1152-60.e12 (2009)

TH17 cells and regulatory T cells in primary immunodeficiency diseases.
[19410687] J Allergy Clin Immunol 123(5): 977-83; quiz 984-5 (2009)

Immunodeficiency due to mutations in ORAI1 and STIM1.
[20189884] Clin Immunol 135(2): 169-82 (2010)

Update on gene therapy for immunodeficiencies.
[20071242] Clin Immunol 135(2): 247-54 (2010)

Genetic defects of apoptosis and primary immunodeficiency.
[18424336] Immunol Allergy Clin North Am 28(2): 329-51, ix (2008)

Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies.
[21477322] Clin Mol Allergy 9(-): 6 (2011)

Mutation analysis in primary immunodeficiency diseases: case studies.
[19841577] Curr Opin Allergy Clin Immunol 9(6): 517-24 (2009)

Clues to immune tolerance: the monogenic autoimmune syndromes.
[20969580] Ann N Y Acad Sci 1214(): 138-55 (2010)

Dedicator of cytokinesis 8 (DOCK8) deficiency.
[20864884] Curr Opin Allergy Clin Immunol 10(6): 515-20 (2010)

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