Disease #02069 (IMD48 (immunodeficiency, type 48 (IMD-48)), OMIM:269840)

Official abbreviation IMD48
Name immunodeficiency, type 48 (IMD-48)
OMIM ID 269840
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 17
Phenotype entries for this disease 17
Associated with 1 gene ZAP70
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

17 entries on 1 page. Showing entries 1 - 17.
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00080450 - PubMed: Chan, A. C (1994) PubMed: Mazer, B (1997) Relative in ZAP70: Z0009 brother ZAP70: Z0010 sister M ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency ZAP70 ZAP70 2 1 Gerard C.P. Schaafsma
00080451 - PubMed: Noraz, N (2000) Relative in ZAP70base: Z0014: sibling - ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080452 - PubMed: Arpaia, E (1994) PubMed: Mazer, B (1997) Relative in ZAP70: Z0002 sister F ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency; Total lymphocytes: 3.6; B-lymphocyte antigen CD3 66; B-lymphocyte antigen CD4 55; B-lymphocyte antigen CD8 0 ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080453 - PubMed: Matsuda, S (1999) Relative in ZAP70: Z0007 sibling - yes - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080454 - PubMed: Arpaia, E (1994) PubMed: Mazer, B (1997) Relative in ZAP70: Z0003 sister F ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency; Total lymphocytes: 4.3; Lymphocytes: Mitogens: 870 Anti-CD3: 900; B-lymphocyte antigen CD3 58; B-lymphocyte antigen CD4 57; B-lymphocyte antigen CD8 0 ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080455 - PubMed: Chan, A. C (1994) PubMed: Mazer, B (1997) Relative in ZAP70: Z0005 brother ZAP70: Z0009 brother F ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency ZAP70 ZAP70 2 1 Gerard C.P. Schaafsma
00080456 - PubMed: Arpaia, E (1994) PubMed: Mazer, B (1997) - F ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency; Total lymphocytes: 8.0; Lymphocytes: Mitogens: 408 Anti-CD3: 376; B-lymphocyte antigen CD3 55; B-lymphocyte antigen CD4 47; B-lymphocyte antigen CD8 8 ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080457 - PubMed: Chan, A. C (1994) PubMed: Mazer, B (1997) Relative in ZAP70: Z0005 brother ZAP70: Z0010 sister M ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency ZAP70 ZAP70 2 1 Gerard C.P. Schaafsma
00080458 - PubMed: Meinl, E (2000) - - ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Infections: P. Carinii pneumonia; Severe or disseminated varicella;; Total lymphocytes: 15-20; B-lymphocyte antigen CD3 1 ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080459 - PubMed: Matsuda, S (1999) Relative in ZAP70: Z0008 sibling - yes - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080460 - PubMed: Matsuda, S (1999) - - ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency ZAP70 ZAP70 2 1 Gerard C.P. Schaafsma
00080461 - PubMed: Elder, M. E (2001) Parents are second degree cousins M ? - Caucasoid - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Infections: P. Carinii pneumonia;; Total lymphocytes: 8; Lymphocytes: Mitogens: absent Anti-CD3: 425; B-lymphocyte antigen CD4 37-40 ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080462 - PubMed: Elder, M. E (1994) PubMed: Elder, M. E (1995) PubMed: Elder, M. E.(1996) PubMed: Mazer, B (1997) Parents are first cousins F ? United States Caucasoid - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Failure to thrive;; Total lymphocytes: 10-20; Lymphocytes: Mitogens: 0 Soluble antigen: 101 Anti-CD3: 102; B-lymphocyte antigen CD4 75, B-lymphocyte antigen CD8 0-2 ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080463 - PubMed: Noraz, N (2000) Relative in ZAP70base: Z0013: sibling - ? - - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080464 - PubMed: Turul, T (2009) Patient's male sibling died of LRTI at age 3 months. F ? Turkey - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Recurrent lower respiratory tract infections; ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080465 - PubMed: Turul, T (2009) Patient died of multiorgan failure. F ? Turkey - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Recurrent gastroenteritis; Lower respiratory tract infections; Oral moniliasis; ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
00080466 - PubMed: Turul, T (2009) - F ? Turkey - - - - - IMD48 Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Recurrent pneumonia; Exfoliative dermatitis; Subcutaneous nodules; Oral moniliasis; ZAP70 ZAP70 1 1 Gerard C.P. Schaafsma
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