LE WE PMID CA
Immunodeficiency (Inherited)1144Immundefizienz (Hereditaer)

Adenine deaminase ADA deficiency

Apoptosis

Arthritis (septic)

Autoimmune lymphoproliferative syndrome

Autoimmune polyglandular syndrome

Autoimmunity

BIRC4

Caspase8

Chronic granulomatous disease

Complement system (Deficiency)

CXCR4

Data base (Medicine Biology Pharmacology)

DNA (Repair and Toxicology)

DOCK8

Down s syndrome

Gene transfer

Hyper Immunoglobulin E syndrome

Hyper immunoglobulin M syndrome

Immunodeficiency (humoral)

Immunodeficiency (Inherited)

Immunodeficiency (Severe combined immunodeficiency)

Immunodeficiency (T cellular)

Immunotherapy (Adoptive cell transfer)

Inflammatory bowel diseases

IPEX syndrome

ORAI1 CRACM1

Properdin

Regulatory T cell

SBDS

SH2D1A

Shwachman Diamond syndrome

STIM1

T cell (Th17)

TAP

Tyk2

WHIM syndrome

Wiskott Aldrich syndrome

X linked lymphoproliferative disease

XHIM X linked immunodeficiency with hyper immunoglobulin M

XIAP

2008  
1
Revisiting human primary immunodeficiencies.
[18544117] J Intern Med 264(2): 115-27 (2008)
1979  
2
Lymphocyte purine metabolism -- significance of 5'-nucleotidase deficiency: a review.
[233249] J R Soc Med 72(4): 266-9 (1979)
2005  
3
The skin in primary immunodeficiency disorders.
[16280293] Eur J Dermatol 15(6): 425-32 (2005)
2003  
4
Infections in patients with inherited defects in phagocytic function.
[14557288] Clin Microbiol Rev 16(4): 597-621 (2003)
2006  
5
Primary immunodeficiencies and susceptibility to parasitic infections.
[17042928] Parasite Immunol 28(11): 567-75 (2006)
2006  
6
Immune deficiencies and parasitic diseases.
[17042926] Parasite Immunol 28(11): 545-7 (2006)
2010  
7
Diagnosis and management of immunodeficiencies in adults by allergologists.
[20635783] J Investig Allergol Clin Immunol 20(3): 185-94 (2010)
2002  
8
Immunoglobulin E in primary immunodeficiency diseases.
[12358995] Allergy 57(11): 995-1007 (2002)
2007  
9
Immunity to microbes: lessons from primary immunodeficiencies.
[17283094] Infect Immun 75(4): 1545-55 (2007)
2009  
10
Primary immunodeficiencies: "new" disease in an old country.
[20003815] Cell Mol Immunol 6(6): 397-406 (2009)
2006  
11
Current perspectives on primary immunodeficiency diseases.
[17162365] Clin Dev Immunol 13(2-4): 223-59 (2006)
2007  
12
Human primary immunodeficiency diseases.
[18093537] Immunity 27(6): 835-45 (2007)
2006  
13
Human tyk2 kinase deficiency: another primary immunodeficiency syndrome.
[17098200] Immunity 25(5): 695-7 (2006)
2001  
14
Gene therapy for human severe combined immunodeficiencies.
[11485732] Immunity 15(1): 1-4 (2001)
2009  
15
Leukocyte trafficking in primary immunodeficiencies.
[19088178] J Leukoc Biol 85(3): 335-43 (2009)
2004  
16
Leukocyte circulation: one-way or round-trip? Lessons from primary immunodeficiency patients.
[15075352] J Leukoc Biol 76(1): 1-6 (2004)
2002  
17
Primary immunodeficiency diseases: natural mutant models for the study of the immune system.
[11940230] Scand J Immunol 55(3): 238-41 (2002)
2000  
18
Structure-function effects in primary immunodeficiencies.
[10972897] Scand J Immunol 52(3): 226-32 (2000)
2009  
19
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)
2008  
20
Clinical immunology review series: an approach to the patient with recurrent infections in childhood.
[18373701] Clin Exp Immunol 152(3): 389-96 (2008)
2008  
21
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)
2007  
22
Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review.
[17565605] Clin Exp Immunol 149(3): 410-23 (2007)
2007  
23
The European internet-based patient and research database for primary immunodeficiencies: results 2004-06.
[17223972] Clin Exp Immunol 147(2): 306-12 (2007)
2005  
24
Primary immune deficiencies--improving our understanding of their role in immunological disease.
[15606607] Clin Exp Immunol 139(1): 11-2 (2005)
2000  
25
2000  
26
Immunodeficiency associated with DNA repair defects.
[10886231] Clin Exp Immunol 121(1): 1-7 (2000)
2000  
27
X-linked immunodeficiency with hyper-IgM (XHIM).
[10844515] Clin Exp Immunol 120(3): 399-405 (2000)
2000  
28
1999  
29
Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies.
[10540200] Clin Exp Immunol 118 Suppl 1(-): 1-28 (1999)
1995  
30
Primary immunodeficiency diseases. Report of a WHO Scientific Group.
[7813117] Clin Exp Immunol 99 Suppl 1(-): 1-24 (1995)
1991  
31
Genetics of human X-linked immunodeficiency diseases.
[1863997] Clin Exp Immunol 85(2): 182-92 (1991)
1990  
32
Selective IgG subclass deficiency: quantification and clinical relevance.
[2204502] Clin Exp Immunol 81(3): 357-67 (1990)
1982  
33
Metabolic defects in immunodeficiency diseases.
[6290113] Clin Exp Immunol 49(1): 1-10 (1982)
2009  
34
Progress and prospects: gene therapy for inherited immunodeficiencies.
[19776764] Gene Ther 16(11): 1285-91 (2009)
1983  
35
Human purine metabolism: some recent advances and relationships with immunodeficiency.
[6311120] Ann Rheum Dis 42 Suppl 1(-): 8-11 (1983)
2000  
36
Oral manifestations of primary immunological diseases.
[10715926] J Am Dent Assoc 131(3): 345-56 (2000)
1972  
37
Treatment of immune deficiency.
[4564039] Am J Pathol 69(3): 529-36 (1972)
1972  
38
Circulating B-cells in patients with immunodeficiency.
[4564038] Am J Pathol 69(3): 513-28 (1972)
1972  
39
Recent studies on the immunodeficiencies of man.
[4564037] Am J Pathol 69(3): 484-90 (1972)
1988  
40
Prenatal diagnosis and carrier detection in primary immunodeficiency disorders.
[3046509] Arch Dis Child 63(7 Spec No): 758-64 (1988)
1988  
41
Clinical significance of IgG subclass deficiency.
[3046504] Arch Dis Child 63(7): 771-3 (1988)
2003  
42
2009  
43
Human genetics of infectious diseases: between proof of principle and paradigm.
[19729848] J Clin Invest 119(9): 2506-14 (2009)
2002  
44
Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways.
[12021239] J Clin Invest 109(10): 1261-9 (2002)
2005  
45
Primary antibody deficiency and diagnostic delay.
[15858130] J Clin Pathol 58(5): 546-7 (2005)
1971  
46
Suppression of the immune response.
[4106431] J Med Genet 8(3): 321-40 (1971)
1970  
47
Genetics of immunity deficiency syndromes.
[4925725] J Med Genet 7(4): 310-4 (1970)
2004  
48
The molecular pathology of primary immunodeficiencies.
[15096561] J Mol Diagn 6(2): 59-83 (2004)
2009  
49
Thoracic manifestations of primary humoral immunodeficiency: a comprehensive review.
[19926753] Radiographics 29(7): 1909-20 (2009)
2011  
50
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)
2007  
51
Update on the treatment of primary immunodeficiencies.
[17923072] Allergol Immunopathol (Madr) 35(5): 184-92 (2007)
2010  
52
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)
2010  
53
Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency.
[20403930] Pediatrics 125(5): e1226-35 (2010)
2009  
54
Ten years of gene therapy for primary immune deficiencies.
[20008254] Hematology Am Soc Hematol Educ Program -(-): 682-9 (2009)
2009  
55
Primary immunodeficiencies (PIDs) presenting with cytopenias.
[20008192] Hematology Am Soc Hematol Educ Program -(-): 139-43 (2009)
2007  
56
Primary immunodeficiency: complex genetic disorders?
[17259244] Clin Chem 53(2): 159-60 (2007)
2002  
57
Gene therapy for human severe combined immunodeficiencies.
[11802313] Isr Med Assoc J 4(1): 51-4 (2002)
2002  
58
Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.
[11875988] Isr Med Assoc J 4(2): 131-5 (2002)
2009  
59
Primary immunodeficiency diseases: relevant aspects for pulmonologists.
[19918634] J Bras Pneumol 35(10): 1008-17 (2009)
2009  
60
2009  
61
The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008.
[19630863] Clin Exp Immunol 157 Suppl 1(-): 3-11 (2009)
2009  
62
Intrinsic defect of the immune system in children with Down syndrome: a review.
[19250275] Clin Exp Immunol 156(2): 189-93 (2009)
2010  
63
Inflammatory bowel diseases in patients with adaptive and complement immunodeficiency disorders.
[20848466] Inflamm Bowel Dis 16(11): 1984-92 (2010)
2010  
64
Gastrointestinal manifestations in primary immune disorders.
[19637385] Inflamm Bowel Dis 16(4): 703-11 (2010)
2008  
65
Recent advances in gene therapy for severe congenital immunodeficiency diseases.
[18536577] Curr Opin Hematol 15(4): 375-80 (2008)
2009  
66
WHIM syndrome: congenital immune deficiency disease.
[19057201] Curr Opin Hematol 16(1): 20-6 (2009)
2011  
67
Educational paper: Primary immunodeficiencies in children: a diagnostic challenge.
[21170549] Eur J Pediatr 170(2): 169-77 (2011)
2011  
68
Educational paper: syndromic forms of primary immunodeficiency.
[21337117] Eur J Pediatr 170(3): 295-308 (2011)
2010  
69
Gastrointestinal and hepatic manifestations of primary immune deficiency diseases.
[20339173] Saudi J Gastroenterol 16(2): 66-74 (2010)
2008  
70
Osteoarticular infectious complications in patients with primary immunodeficiencies.
[18525364] Curr Opin Rheumatol 20(4): 480-5 (2008)
2009  
71
Rheumatologic and autoimmune manifestations of primary immunodeficiency disorders.
[19077721] Curr Opin Rheumatol 21(1): 78-84 (2009)
2010  
72
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)
2009  
73
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
[20004776] J Allergy Clin Immunol 124(6): 1152-60.e12 (2009)
2009  
74
TH17 cells and regulatory T cells in primary immunodeficiency diseases.
[19410687] J Allergy Clin Immunol 123(5): 977-83; quiz 984-5 (2009)
2010  
75
Immunodeficiency due to mutations in ORAI1 and STIM1.
[20189884] Clin Immunol 135(2): 169-82 (2010)
2010  
76
Update on gene therapy for immunodeficiencies.
[20071242] Clin Immunol 135(2): 247-54 (2010)
2008  
77
Genetic defects of apoptosis and primary immunodeficiency.
[18424336] Immunol Allergy Clin North Am 28(2): 329-51, ix (2008)
2011  
78
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)
2009  
79
Mutation analysis in primary immunodeficiency diseases: case studies.
[19841577] Curr Opin Allergy Clin Immunol 9(6): 517-24 (2009)
2010  
80
Clues to immune tolerance: the monogenic autoimmune syndromes.
[20969580] Ann N Y Acad Sci 1214(): 138-55 (2010)
2010  
81
Dedicator of cytokinesis 8 (DOCK8) deficiency.
[20864884] Curr Opin Allergy Clin Immunol 10(6): 515-20 (2010)

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