MCID: IMM168
MIFTS: 10

Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes

Categories: Immune diseases

Aliases & Classifications for Immunodeficiency, Partial Combined, with Absence of Hla...

MalaCards integrated aliases for Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes:

Name: Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes 56

Characteristics:

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 242870
MedGen 41 C1855762

Summaries for Immunodeficiency, Partial Combined, with Absence of Hla...

MalaCards based summary : Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes Affiliated tissues include t cells, and related phenotypes are immunodeficiency and recurrent bacterial infections

More information from OMIM: 242870

Related Diseases for Immunodeficiency, Partial Combined, with Absence of Hla...

Symptoms & Phenotypes for Immunodeficiency, Partial Combined, with Absence of Hla...

Human phenotypes related to Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes:

31
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 recurrent bacterial infections 31 HP:0002718
3 decreased circulating igg level 31 HP:0004315
4 decrease in t cell count 31 HP:0005403
5 recurrent candida infections 31 HP:0005401

Symptoms via clinical synopsis from OMIM:

56
Immunology:
hypogammaglobulinemia
b-lymphocytes present
plasma cell differentiation deficient
t-lymphocytes decreased
t-lymphocytes unresponsive to antigens

Lab:
lymphocyte hla-a, hla-b and hla-c determinants absent
t-cell beta-2-microglobulin absent
b-lymphocyte beta-2-microglobulin present

Misc:
multiple pyogenic infections
persistent candidiasis

Clinical features from OMIM:

242870

Drugs & Therapeutics for Immunodeficiency, Partial Combined, with Absence of Hla...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes

Genetic Tests for Immunodeficiency, Partial Combined, with Absence of Hla...

Anatomical Context for Immunodeficiency, Partial Combined, with Absence of Hla...

MalaCards organs/tissues related to Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes:

40
T Cells

Publications for Immunodeficiency, Partial Combined, with Absence of Hla...

Articles related to Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes:

# Title Authors PMID Year
1
Failure of lymphocyte-membrane HLA-A and -B expression in two siblings with combined immunodeficiency. 56
92382 1979
2
Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens. 56
650344 1978
3
The genetic control of HLA-A and B antigens in somatic cell hybrids: requirement for beta2 microglobulin. 56
77067 1978

Variations for Immunodeficiency, Partial Combined, with Absence of Hla...

Expression for Immunodeficiency, Partial Combined, with Absence of Hla...

Search GEO for disease gene expression data for Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes.

Pathways for Immunodeficiency, Partial Combined, with Absence of Hla...

GO Terms for Immunodeficiency, Partial Combined, with Absence of Hla...

Sources for Immunodeficiency, Partial Combined, with Absence of Hla...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....