Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficieney: A genetic syndrome?

American Journal of Medical Genetics

Volumn 95, Issue 1, 2000, Pages 17-20

  Adderson, Elisabeth E ^a   Viskochil, David H ^b   Carey, John C ^b   Shigeoka, Ann O ^b   Christenson, John C ^b   Bohnsack, John F ^b   Hill, Harry R ^b  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Agammaglobulinemia; Growth failure; Immunodeficiency; Intracranial calcification; Pancytopenia

Indexed keywords

ANTIBODY; IMMUNOGLOBULIN; LYMPHOCYTE SURFACE MARKER;

AGAMMAGLOBULINEMIA; ANTIBODY PRODUCTION; ARTICLE; B LYMPHOCYTE; BRAIN CALCIFICATION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL INFECTION; FEMALE; GROWTH DISORDER; HEMATOLOGIC DISEASE; HUMAN; HUMORAL IMMUNE DEFICIENCY; IMMUNOGLOBULIN PRODUCTION; INFANT; INTRAUTERINE GROWTH RETARDATION; INTRAUTERINE INFECTION; MALE; PANCYTOPENIA; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL;

BRAIN DISEASES; CALCINOSIS; CASE REPORT; COMMON VARIABLE IMMUNODEFICIENCY; FATAL OUTCOME; FEMALE; GROWTH DISORDERS; HUMAN; INFANT; MALE; PANCYTOPENIA; SYNDROME;

EID: 0034613954     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001106)95:1<17::AID-AJMG5>3.0.CO;2-M     Document Type: Article

References (17)

1. Microcephaly and intracranial calcification in two brothers
2. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia
3. Syk tyrosine kinase required for mouse viability and b-cell development
4. Neutropenia in x-linked agammaglobulinemia
5. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers
6. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure
7. Impaired b cell maturation in mice lacking bruton's tyrosine kinase (Btk) and CD40
8. Mutations in Igα (CD79a) result in a complete block in B-cell development
9. Mutations in the human λ5/14.1 gene result in b cell deficiency and agammaglobulinemia
10. Autosomal recessive congenital intra-uterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease
11. A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressve pancytopenia
12. Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers
13. ICF syndrome: A new case and review of the literature
14. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
15. Perinatal lethality and blocked B cell development in mice lacking the tyrosine kinase syk
16. The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-tyrosine kinases
17. Mutations in the μ heavy-chain gene in patients with agammaglobulinemia