Syndromic immunodeficiencies with humoral defects

Immunology and Allergy Clinics of North America

Volumn 21, Issue 1, 2001, Pages 91-111

  Ming, Jeffrey E ^a   Stiehm, E Richard ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TOXIN;

CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL FEATURE; EMBRYO DEVELOPMENT; GENE DELETION; GENE DISRUPTION; GROWTH HORMONE DEFICIENCY; HUMAN; HUMORAL IMMUNE DEFICIENCY; INBORN ERROR OF METABOLISM; INTESTINE ATRESIA; METABOLITE; NETHERTON DISEASE; PRENATAL EXPOSURE; PRIORITY JOURNAL; REVIEW; SYMPTOM; WISKOTT ALDRICH SYNDROME;

EID: 0035191122     PISSN: 08898561     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8561(05)70194-6     Document Type: Article

References (126)

1. A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency
2. Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis
3. Antibody-mediated immunodeficiency in short-limbed dwarfism
4. Kabuki syndrome and common variable immunodeficiency
5. Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia
6. Enhanced phosphorylation of p53 by ATM in response to DNA damage
7. Defective monocyte chemotaxis in children with Down's syndrome
8. Prediction of persistent immunodeficiency in the DiGeorge anomaly
9. Aural abnormalities in partial DiGeorge syndrome
10. Down syndrome: A model of immunodeficiency
11. Clinical and immunological findings in four infants with Omenn's syndrome: A form of severe combined immunodeficiency with phenotypically normal T cells, elevated IgE and eosinophilia
12. Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?
13. Serum immunoglobulins and lymphocyte subpopulations derangement in Turner's syndrome
14. Activation of the ATM kinase by ionizing radiation and phosphorylation of p53
15. Relative increase of T cells expressing the γ/δ rather than the α/β receptor in ataxia-telangiectasia
16. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
17. Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency
18. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency
19. Immune functions in children treated with biosynthetic growth hormone
20. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia
21. Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency
22. A chromosomal breakage syndrome with profound immunodeficiency
23. Congenital folate malabsorption
24. Precocious aging of the immune system in Down Syndrome: Alteration of B lymphocytes T-lymphocyte subsets and cells with natural killer markers
25. Immune dysfunction in Down's syndrome: Primary immune deficiency or early senescence of the immune system?
26. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
27. Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)
28. X-ring Turner's syndrome with combined immunodeficiency and selective gonadotropin defect
29. An exon-skipping mutation in the BTK gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency
30. Molecular genetics of Bloom's syndrome
31. The Bloom's syndrome gene product is homologous to RecQ helicases
32. The genetic basic of conotruncal cardiac defects: The chromosome 22q11.2 deletion
33. Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings: A recessively inherited entity?
34. Heterogeneity of immunological abnormalities in ataxia-telangiectasia
35. Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome: Report of two new patients and review of the literature
36. Hereditary lymphopenic agammaglobulinemia associated with a distinctive from of short-limbed dwarfism and ectodermal dysplasia
37. Association of bilateral renal agenesis and DiGeorge syndrome in an infant of a diabetic mother
38. Granulomatous reaction in an infant with combined immunodeficiency disease and short-limbed dwarfism
39. Folate deficiency beyond megaloblastic anemia: Hyperhomocys teinemia and other manifestations of dysfunctional folate status
40. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
41. Netherton's syndrome report of a case review of the literature
42. Identification of WASP mutations, mutation hotspots, and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome
43. Antibody deficiency in Wolf-Hirschhorn syndrome
44. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
45. Hereditary transcobalamin II deficiency: Clinical findings in a new family
46. Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies
47. V(D)J recombination in ataxia-telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder
48. A kindred with Griscelli disease: Spectrum of neurological involvement
49. Abnormal immune responses of Bloom's syndrome lymphocytes in vitro
50. Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors
51. An embryonic-like methylation patern of classical satellite DNA is observed in ICF syndrome
52. Transcobalamin II deficiency: Case report and review of the literature
53. Imbalances in subsets of T lymphocytes in an inbred pedigree with Omenn's syndrome
54. Lymphocyte subset distribution and natural killer activity in growth hormone deficiency before and during short-term treatment with growth hormone releasing hormone
55. Partial albinism with immunodeficiency (Griscelli syndrome)
56. Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isoiated thrombocytopenia reveals allelic heterogeneity at the WAS locus
57. Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42
58. Defective calcium-dependent signal transduction in T lymphocytes of ataxia-telangiectasia
59. Long-term study of the immunodeficiency of Bloom's syndrome
60. Retinoic acid embryopathy: A new human teratogen and a mechanistic hypothesis
61. Thymic deficiency in Down's syndrome
62. Hybrid T-cell receptor genes formed by interlocus recombination in normal and ataxia-telangiectasia lymphocytes
63. Age-related changes in humoral and cell-mediated immunity in Down syndrome children living at home
64. Immunoglobulin levels T-cell markers mitogen responsiveness and thymic hormone activity in Turner's syndrome
65. Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: Report of two patients and review
66. Immunodeficiency, growth hormone deficiency and central nervous system involvement in a girl
67. Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature
68. Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: The ICF syndrome
69. Linkage of ATM to cell cycle regulation by the Chk2 protein kinase
70. The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
71. Ataxia-telangiectasia
72. Myosin-V is a processive actin-based motor
73. Syndromes associated with immunodeficiency
74. Cell-mediated cytotoxicity in Down syndrome: Impairment of allogeneic mixed lymphocyte reaction NK and NK-like activities
75. Immune deficiency in familial duodenal atresia
76. Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: Study of a family
77. In situ visualization of DNA double-strand break repair in human fibroblasts
78. Immunodeficiency with increased immuno-globulin M associated with growth hormone insufficiency
79. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
80. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-VA gene
81. Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by the Mre11/Rad50 complex
82. Highly restricted human T-cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome
83. Common variable immunodeficiency in association with Turner's syndrome
84. Primary immunodeficiency diseases - Report of a WHO scientific group
85. A syndrome involving immunodeficiency and multiple intestinal atresias
86. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species
87. Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome)
88. Omenn phenotype with short-limbed dwarfism
89. Rag mutations in human B cell-negative SCID
90. Seemanova E: An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability
91. Conversion of selective IgA deficiency to common variable immunodeficiency in an adolescent female with 18q deletion syndrome
92. ICF syndrome: A new case and review of the literature
93. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
94. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
95. Immune function in growth hormone-deficient children treated with biosynthetic growth hormone
96. Wiskott-Aldrich syndrome: A multidisciplinary disease
97. Molecular-genetic analysis of X-linked hypogammaglobulinemia and isolated growth-hormone deficiency
98. Absent IgA and deletions of chromosome 18
99. Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome
100. Lack of correlation between impaired T-cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/velocardiofacial syndrome)
101. A multi-institutional survey of the Wiskott-Aldrich syndrome
102. Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization
103. Further delineation of the Nijmegen breakage syndrome
104. Growth hormone deficiency and combined immunodeficiency
105. Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician
106. Multibranched crhomosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency
107. Immunology of Down syndrome: A review
108. Congenital isolated folic acid malabsorption
109. Nijmegen breakage syndrome
110. Bloom's syndrome: Clinical features and immunologic abnormalities of four patients
111. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
112. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
113. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
114. Partial V(D)J recombination activity leads to Omenn syndrome
115. Mutations of UFDIL are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11
116. Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxiatelangiectasia
117. Multiple areas of intestinal atresia associated with immunodeficiency and posttransfusion graft-versus-host disease
118. Immune responses in four patients with Bloom syndrome
119. A new chromosomal instability disorder. The Nijmegen breakage syndrome
120. A new chromosomal instability disorder confirmed by complementation studies
121. Clinical and chromsomal studies of the 18q- syndrome
122. Ataxia-telangiectasia in the British Isles: The clinical and laboratory features of 70 affected individuals
123. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
124. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
125. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects