Disease #02244 (XLP1 (lymphoproliferative syndrome, X-linked, type 1 (XLP-1)), OMIM:308240)

Official abbreviation XLP1
Name lymphoproliferative syndrome, X-linked, type 1 (XLP-1)
OMIM ID 308240
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 108
Phenotype entries for this disease 109
Associated with 2 genes SH2D1A, XIAP
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

108 entries on 2 pages. Showing entries 1 - 100.
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00079908 - PubMed: Lui 2015 - M ? (China) - - - - - XLP1 , Symptoms: high fever, hypogammaglobulinemia, diffuse lung disease and encephalitis. Patient was infected with the lymphocytic choriomeningitis virus (LCMV) SH2D1A SH2D1A 1 1 Jelena Čalyševa
00080467 - PubMed: Nichols, K.E (1998) PubMed: Coffey, A.J (1998) PubMed: Yin, L (1999) - M ? - - - - - - XLP1 Symptoms: Classical XLP; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080468 - PubMed: Nichols, K.E (1998) - M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant IM, EBV-associated lymphoma or hypogammaglobulinemia; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080469 - PubMed: Nichols, K.E (1998) PubMed: Coffey, A.J (1998) PubMed: Yin, L (1999) - M ? - - - - - - XLP1 Symptoms: Classical XLP; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080470 - PubMed: Nichols, K.E (1998) - M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant IM, EBV-associated lymphoma or hypogammaglobulinemia; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080471 - PubMed: Sayos, J PubMed: Yin, L (1999) - M ? - - - - - - XLP1 Symptoms: Classical XLP; hypogammaglobulinemia, recurrent pulmonary infections, severe EBV-induced mononcleosis; Protein structure: Splice defect SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080472 - PubMed: Sumazaki, R (2001) Family history: one brother with hypogammaglobulinemia M ? - Japanese - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, hypogammaglobulinemia; Clinical history: stable at 17 years old under intravenous immunoglobulins SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080473 - PubMed: Sumazaki, R (2001) - - ? - Japanese - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis; Clinical history: died after 1 month SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080474 - PubMed: Arico, M (2001) Family history: a brother diagnosed with fever and cytopenia during infancy and a second male sibling with Burkitt's lymphoma at the age of 3 M ? Italy - - - - - XLP1 Symptoms: Classical XLP; hemophagocytic lymphocytosis; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080475 - PubMed: Arico, M (2001) - M ? Italy - - - - - XLP1 Symptoms: Classical XLP; hemophagocytic lymphocytosis; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080476 - PubMed: Dutz, J. P (2000) Family history: an affected male cousin, four female carriers; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; virus associated hemophagocytic syndrome, later chorioretinitis, bronchiectasis, hypogammaglobulinemia and fatal respiratory failure SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080477 - PubMed: Sumegi, J (2000) Family history: an affected male in the K062 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080478 - PubMed: Sumegi, J (2000) Family history: 16 other affected males in the K002 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, lymphoproliferative disorders, dysgammaglobulinemia SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080479 - PubMed: Sumegi, J (2000) Family history: an affected male in the K019 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, lymphoproliferative disorders; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080480 - PubMed: Sumegi, J (2000) Family history: an affected male in the K030 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; lymphoproliferative disorders; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080481 - PubMed: Sumegi, J (2000) Family history: 15 other affected males in the K003 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; lymphoproliferative disorders; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080482 - PubMed: Sumegi, J (2000) Family history: 5 other affected males in the K004 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; dysgammaglobulinemia; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080483 - PubMed: Sumegi, J (2000) Family history: 7 other affected males in the K006 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis lymphoproliferative disorders coded in the ref [1] as Q58X thought the mutation at the nucleic acid level equals to R55X; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080484 - PubMed: Sumegi, J (2000) Family history: 5 other affected males in the K084 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080485 - PubMed: Sumegi, J (2000) Family history: an affected male in the K069 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, lymphoproliferative disorders; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080486 - PubMed: Sumegi, J (2000) Family history: 2 other affected males in the K081 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, lymphoproliferative disorders; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080487 - PubMed: Sumegi, J (2000) Family history: 2 other affected males in the K054 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; lymphoproliferative disorders; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080488 - PubMed: Sumegi, J (2000) Family history: 2 other affected males in the K082 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, dysgammaglobulinemia SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080489 - PubMed: Hare, N. J (2006) - - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080490 - PubMed: Hare, N. J (2006) The mutated protein was not able to associate with SLAM, 2B4, or CD84 - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Much reduced; Protein structure: Reduced half-life SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080491 - PubMed: Morra, M (2001) SH2D1A: A0099: cousin SH2D1A: A0100: cousin SH2D1A: A0101: cousin SH2D1A: A0102: brother SH2D1A: A0103: brother; Family history: an affected brother died of fulminant mononucleosis mother and her sister carriers - ? - - - - - - XLP1 Symptoms: Classical XLP; bone marrow transplantation from a sister, no complications during of after transplantation; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080492 - PubMed: Hare, N. J (2006) SH2D1Abase: A0106:; The mutated protein was not able to associate with SLAM or 2B4, binding to CD84 partially reduced - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Absent; Protein structure: reduced half-life SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080493 - PubMed: Hare, N. J (2006) SH2D1Abase: A0107:; The mutated protein was not able to associate with SLAM or 2B4, binding to CD84 partially reduced - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Absent; Protein structure: reduced half-life SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080494 - PubMed: Morra, M (2001) SH2D1A: A0100: brother SH2D1A: A0102: cousin SH2D1A: A0103: cousin SH2D1A: A0104: cousin; Family history: an affected cousin died of fulminant mononucleosis mother and her sister carriers - ? - - - - - - XLP1 Symptoms: Classical XLP; pneumonia and agammaglobulinemia developed at 10 months, under intravenous; Clinical history: immunoglobulin treatment; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080495 - PubMed: Morra, M (2001) SH2D1A: A0101: brother SH2D1A: A0102: cousin SH2D1A: A0103: cousin SH2D1A: A0104: cousin; Family history: an affected cousin died of fulminant mononucleosis mother and her sister carriers - ? - - - - - - XLP1 Symptoms: Classical XLP; pneumonia and Escherichia coli sepsis at 1 year, under intravenous; Clinical history: immunoglobulin treatment; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080496 - PubMed: Morra, M (2001) SH2D1A: A0100: cousin SH2D1A: A0101: cousin SH2D1A: A0102: brother SH2D1A: A0104: brother; Family history: an affected brother died of fulminant mononucleosis mother and her sister carriers - ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, was treated with methylprednisolone and VP-16 died before bone marrow transplantation; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080497 - PubMed: Morra, M (2001) SH2D1A: A0100: cousin SH2D1A: A0101: cousin SH2D1A: A0103: brother SH2D1A: A0104: brother; Family history: an affected brother died of fulminant mononucleosis mother and her sister carriers - ? - - - - - - XLP1 Symptoms: Classical XLP; died of fulminant infectious mononucleosis; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080498 - PubMed: Sumegi, J (2000) Family history: an other affected male in the K038 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; lymphoproliferative disorders, fulminant infectious mononucleosis SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080499 - PubMed: Sumegi, J (2000) Family history: 13 other affected males in the K053 family; ref [1]; Coded as T53I in the ref [1] by mistake M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, lymphoproliferative disorders, dysgammaglobulinemia SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080500 - PubMed: Sumegi, J (2000) Family history: 2 other affected males in the K061 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, lymphoproliferative disorders; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080501 - PubMed: Sumegi, J (2000) Family history: 2 other affected males in the K032 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, dysgammaglobulinemia; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080502 - PubMed: Sumegi, J (2000) Family history: 10 other affected males in the K001 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, lymphoproliferative disorders, dysgammaglobulinemia; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080503 - PubMed: Sumegi, J (2000) Family history: an other affected male in the K083 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080504 - PubMed: Sumegi, J (2000) Family history: 4 other affected males in the K005 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, lymphoproliferative disorders; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080505 - PubMed: Sumegi, J (2000) Family history: 4 other affected males in the K037 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, dysgammaglobulinemia SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080506 - PubMed: Sumegi, J (2000) Family history: 2 other affected males in the K089 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; malignant lymphoma SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080507 - PubMed: Sumegi, J (2000) Family history: 5 other affected males in the K068 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; lymphoproliferative disorders, dysgammaglobulinemia SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080508 - PubMed: Shinozaki, K (2002) SH2D1Abase: A0119: brother; Patient underwent a successful bone marrow transplantation M ? - Japan - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Symptoms: remittent fever, lymph node swelling in cervical and inguinal regions, hepatosplenomegaly, EBV infection, hypogammaglobulinemia; Protein level: Reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080509 - PubMed: Shinozaki, K (2002) SH2D1Abase: A0118: brother; Monthly i.v. Ig was begun after diagnosis to prevent severe EBV-induced illnesses M ? - Japan - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080510 - PubMed: Arico, M (2001) - M ? - Italy - - - - XLP1 Diagnosis: Hemophagocytic lymphohistiocytosis (HLH) SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080511 - PubMed: Parolini, O (2002) - - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080512 - PubMed: Hugle, B (2006) SH2D1Abase: A0113: half-brother; The patient died of meningitis and pulmonary bleeding. Genetic analysis was not performed, but the diagnosis of XLP in the family was confirmed by mutation screening for SH2D1A in the mother and the maternal aunt of the patient, who were identified as carriers of the mutation. M ? - Spain - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080513 - PubMed: Arico, M (2001) - M ? - Italy - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080514 - PubMed: Erdös, M (2005) SH2D1Abase: A0111: nephew; Mutation analysis in the patient was not applicable, but based on the clinical phenotype, the histological findings and the pedigree it is proposed that the patient had the same mutation as his nephew did. The patient died at the age of 9. M ? - Hungary - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Symptoms: pharyngitis, hepatosplenomegaly, lymphadenopathy, respiratory distress, jaundice, lethargy, hepatic failure, cerebral edema, cerebellar herniation, EBV infection SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080515 - PubMed: Hugle, B (2006) SH2D1Abase: A0114: half-brother; The patient died at the age of 4 of severe intracranial hypertension. Genetic analysis was not performed, but the diagnosis of XLP in the family was confirmed by mutation screening for SH2D1A in the mother and the maternal aunt of the patient, who were identified as carriers of the mutation. M ? - Spain - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Symptoms: signs of severe infectious mononucleosis, EBV infection, hepatic failure, coagulopathy, pancytopenia SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080516 - PubMed: Alangari, A (2006) Significantly low growth hormone levels. Patient underwent a bone-marrow transplant from an HLA-identical sister. Died of post-transplant complications a few months later at the age of 7. Relatives: Parents distant relatives. Three sisters and four brothers all healthy. M ? - Saudi Arabia - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Symptoms: recurrent infections, growth failure, hypogammaglobulinemia, lymphoma, EBV infection; Protein level: Reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080517 - PubMed: Erdös, M (2005) SH2D1Abase: A0112: maternal uncle; Mutant protein half-life was comparable to the WT protein. The mutated protein was not able to associate with SLAM or 2B4. Patient died at the age of 8 months. M ? - Hungary - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Symptoms: pharyngitis, hepatosplenomegaly, maculopapular exanthemas, generalized lymphadenopathy, hepatic failure, respiratory arrest, EBV infection SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080518 - PubMed: Lappalainen, I (2000) Family history: had an maternal uncle who died with aplastic anemia following EBV infection M ? - - - - - - XLP1 Symptoms: Classical XLP; died at 7 years of non-Hodgkin lymphoma; Protein structure: Splice defect SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080519 - PubMed: Sumegi, J (2000) Family history: 2 other affected males in the K046 family; ref [1] M ? - - - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis, aplastic anemia SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080520 - PubMed: Yin, L (1999) - M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080521 - PubMed: Yin, L (1999) - M ? - - - - - - XLP1 Symptoms: Classical XLP; Protein structure: Splice defect SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080522 - PubMed: Yin, L (1999) - M ? - - - - - - XLP1 Symptoms: Classical XLP; Protein structure: Splice defect SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080523 - PubMed: Lappalainen, I (2000) Family history: elder brother died at 16 months of non-Hodgkin lymphoma M ? - - - - - - XLP1 Symptoms: Classical XLP; died at 4 years of fatal hepatitis following EBV-infection SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080524 - PubMed: Lappalainen, I (2000) Family history: nephew who developed EBV-related non-Hodgkin lymphoma at 3 years M ? - - - - - - XLP1 Symptoms: Classical XLP; hypogammaglobulinemia SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080525 - PubMed: Hare, N. J (2006) SH2D1Abase: A0124: SH2D1Abase: A0125: SH2D1Abase: A0126: SH2D1Abase: A0127: SH2D1Abase: A0128: - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Much reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080526 - PubMed: Hare, N. J (2006) SH2D1Abase: A0124: SH2D1Abase: A0125: SH2D1Abase: A0126: SH2D1Abase: A0127: SH2D1Abase: A0129: - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Much reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080527 - PubMed: Gilmour, K. C (2000) - M ? - - - - - - XLP1 Symptoms: hypogammaglobulinemia; Protein level: Absent SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080528 - PubMed: Tabata, Y (2005) - - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Symptoms: Recurrent B cell lymphoma; Protein level: N.D. SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080529 - PubMed: Shinozaki, K (2002) SH2D1Abase: A0120: brother M ? - Japan - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080530 - PubMed: Shinozaki, K (2002) SH2D1Abase: A0121: brother; Patient died of malignant lymphoma and pancytopenia M ? - Japan - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Symptoms: recurrent infections, hypogammaglobulinemia; Protein level: Reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080531 - PubMed: Hare, N. J (2006) SH2D1Abase: A0124: SH2D1Abase: A0125: SH2D1Abase: A0126: SH2D1Abase: A0128: SH2D1Abase: A0129: - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Much reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080532 - PubMed: Hare, N. J (2006) SH2D1Abase: A0124: SH2D1Abase: A0125: SH2D1Abase: A0127: SH2D1Abase: A0128: SH2D1Abase: A0129: - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Much reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080533 - PubMed: Hare, N. J (2006) SH2D1Abase: A0124: SH2D1Abase: A0126: SH2D1Abase: A0127: SH2D1Abase: A0128: SH2D1Abase: A0129: - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Much reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080534 - PubMed: Hare, N. J (2006) SH2D1Abase: A0125: SH2D1Abase: A0126: SH2D1Abase: A0127: SH2D1Abase: A0128: SH2D1Abase: A0129: - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Much reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080535 - PubMed: Tabata, Y (2005) - - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Symptoms: Hypogammaglobulinemia; Protein level: Much reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080536 - PubMed: Tabata, Y (2005) 2 differently spliced transcripts detected in patient T cells. Significantly decreased SAP expression in CD56+ T cells and NK cells but a small positive peak in CD8+ T cells. - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080537 - - - M ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Symptoms: fever, hepatosplenomegaly, lymphadenopathy, thrombocytopenia, hepatitis with predominantly lymphocytic infiltration and erythtophagocytosis SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080538 - PubMed: Tabata, Y (2005) - - ? - - - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome; Protein level: Much reduced SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080539 - PubMed: Woon, S. T (2008) Description of pedigree:Patient's maternal uncle died of non-Hodgkin's lymphomaat age 10 years and maternal grandmother died of lymphoma at age 51 years.; Patient died of hepatic failure. M ? - New zealand - - - - XLP1 Diagnosis: X-linked lymphoproliferative syndrome SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080540 - PubMed: Yin, L (1999) - M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080541 - PubMed: Yin, L (1999) - M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080542 - PubMed: Brandau, O (1999) SH2D1A: A0034: brother M ? - - - - - - XLP1 Symptoms: Classical XLP; anemia, dysgammaglobulinemia, stable under chemotherapy NHL lymphoma; Protein structure: Splice defect SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080543 - PubMed: Brandau, O (1999) SH2D1A: A0035: brother M ? - - - - - - XLP1 Symptoms: Classical XLP; infectious mononucleosis, EBV serology, anemia dysgammaglobulinemia, died at the age of one after chemotherapy for virus-associated haemophagocytic syndrome; Protein structure: Splice defect SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080544 - PubMed: Brandau, O (1999) SH2D1A: A0036: brother M ? - - - - - - XLP1 Symptoms: Classical XLP; anemia, NHL lymphoma, im remission, age 10; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080545 - PubMed: Brandau, O (1999) SH2D1A: A0037: brother M ? - - - - - - XLP1 Symptoms: Classical XLP; anemia, NHL lymphoma, im remission, age 15; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080546 - PubMed: Brandau, O (1999) SH2D1A: A0032: brother; Family history: 4 brothers with fatal infectious mononucleosis M ? Spain - - - - - XLP1 Symptoms: Classical XLP; infectious mononucleosis, EBV serology SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080547 - PubMed: Brandau, O (1999) - M ? - - - - - - XLP1 Symptoms: Classical XLP; hypogammaglobulinemia, infectious mononucleosis, EBV serology, anemia SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080548 - PubMed: Brandau, O (1999) Family history: 2 brothers with fatal infectious mononucleosis M ? - - - - - - XLP1 Symptoms: Classical XLP; infectious mononucleosis, EBV serology, anemia, hypogammaglobulinemia, stable under i.v. immunoglobulins; Protein structure: Splice defect SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080549 - PubMed: Brandau, O (1999) SH2D1A: A0031: brother; Family history: 4 brothers with fatal infectious mononucleosis M ? Spain - - - - - XLP1 Symptoms: Classical XLP; infectious mononucleosis, EBV serology, elevated IgM dysgammaglobulinemia stem cell transplantation planned SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080550 - - - M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A - - 1 Gerard C.P. Schaafsma
00080551 - - - M ? - - - - - - XLP1 Symptoms: Classical XLP; Protein structure: Splice defect SH2D1A - - 1 Gerard C.P. Schaafsma
00080552 - PubMed: Coffey, A.J (1998) - M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080553 - - - M ? - - - - - - XLP1 Symptoms: Classical XLP; Protein structure: Premature stop SH2D1A - - 1 Gerard C.P. Schaafsma
00080554 - PubMed: Coffey, A.J (1998) SH2D1A: A0021: brother M ? - - - - - - XLP1 Symptoms: Classical XLP classical XLP; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080555 - PubMed: Coffey, A.J (1998) SH2D1A: A0020: brother M ? - - - - - - XLP1 Symptoms: Classical XLP; Protein structure: Large deletion SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080556 - PubMed: Coffey, A.J (1998) - M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080557 - PubMed: Coffey, A.J (1998) - M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080558 - PubMed: Coffey, A.J (1998) - M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080559 - PubMed: Coffey, A.J (1998) - M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080560 - PubMed: Coffey, A.J (1998) SH2D1A: A0014: brother SH2D1A: A0015: brother M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080561 - PubMed: Coffey, A.J (1998) SH2D1A: A0014: brother SH2D1A: A0016: brother M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080562 - PubMed: Coffey, A.J (1998) SH2D1A: A0015 brother SH2D1A: A0016:brother M ? - - - - - - XLP1 Symptoms: Classical XLP SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080563 - PubMed: Sumazaki, R (2001) SH2D1A: A0092: brother; Family history: carriers gramdmother and mother; ref [1] - ? - Japanese - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis; Clinical history: died after 20 days; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080564 - PubMed: Sumazaki, R (2001) SH2D1A: A0093: brother; Family history: carriers gramdmother and mother; ref [1] - ? - Japanese - - - - XLP1 Symptoms: Classical XLP; fulminant infectious mononucleosis; Clinical history: died after 19 days; Protein structure: Premature stop SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
00080565 - PubMed: Sumazaki, R (2001) Family history: carrier mother; ref [1] - ? - Japanese - - - - XLP1 Symptoms: Classical XLP; EBV-associated lymphoma; Clinical history: in remission after chemotherapy umbilical stem cell transplantation SH2D1A SH2D1A 1 1 Gerard C.P. Schaafsma
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