IMD79
MCID: IMM239
MIFTS: 23

Immunodeficiency 79 (IMD79)

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 79

MalaCards integrated aliases for Immunodeficiency 79:

Name: Immunodeficiency 79 57 6
Cd4 Deficiency 57 20
Imd79 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
variable severity and phenotype
two unrelated adult women have been reported (last curated march 2021)


Classifications:



External Ids:

OMIM® 57 619238
OMIM Phenotypic Series 57 PS300755

Summaries for Immunodeficiency 79

OMIM® : 57 Immunodeficiency-79 (IMD79) is an autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections beginning in childhood, but the phenotype overall is mild compared to other primary immunodeficiencies. Patients may not come to attention until adulthood. Laboratory studies show absence of the CD4 antigen on T cells, monocytes, and dendritic cells, with variable secondary abnormalities in B cells and NK cells due to lack of CD4+ T cells (summary by Lisco et al., 2021). (619238) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 79, also known as cd4 deficiency, is related to purpura and hemolytic anemia. An important gene associated with Immunodeficiency 79 is CD4 (CD4 Molecule). The drug Trimethoprim, Sulfamethoxazole Drug Combination has been mentioned in the context of this disorder. Affiliated tissues include t cells, monocytes and nk cells.

Related Diseases for Immunodeficiency 79

Diseases related to Immunodeficiency 79 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 purpura 9.9
2 hemolytic anemia 9.9
3 temporal arteritis 9.7
4 thrombocytopenic purpura, autoimmune 9.7
5 anemia, autoimmune hemolytic 9.7
6 immune deficiency disease 9.7
7 myelodysplastic syndrome 9.7
8 thrombotic thrombocytopenic purpura 9.7
9 thrombocytopenia 9.7
10 acute kidney failure 9.7
11 ischemia 9.7
12 lactic acidosis 9.7
13 poliomyelitis 9.7
14 lymphopenia 9.7
15 herpes zoster 9.7
16 allergic encephalomyelitis 9.7
17 splenomegaly 9.7
18 thrombotic microangiopathy 9.7

Graphical network of the top 20 diseases related to Immunodeficiency 79:



Diseases related to Immunodeficiency 79

Symptoms & Phenotypes for Immunodeficiency 79

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
respiratory infections, recurrent (in some patients)

Immunology:
absence of cd4+ t cells
lack of cd4 expression on monocytes and dendritic cells
increased cd4-/cd8- t cells (double negative)
impaired nk cell function (in some patients)
impaired b cell development (in some patients)
more
Skin Nails Hair Skin:
warts, recalcitrant

Clinical features from OMIM®:

619238 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 79

Drugs for Immunodeficiency 79 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Trimethoprim, Sulfamethoxazole Drug Combination

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Non-enrolment and Non-adherence to HIV Care in a Community-based Program, Rakai, Uganda Completed NCT02135003

Search NIH Clinical Center for Immunodeficiency 79

Genetic Tests for Immunodeficiency 79

Anatomical Context for Immunodeficiency 79

MalaCards organs/tissues related to Immunodeficiency 79:

40
T Cells, Monocytes, Nk Cells, B Cells

Publications for Immunodeficiency 79

Articles related to Immunodeficiency 79:

(show all 27)
# Title Authors PMID Year
1
Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. 57 6
33471124 2021
2
Complete Multilineage CD4 Expression Defect Associated With Warts Due to an Inherited Homozygous CD4 Gene Mutation. 6 57
31781092 2019
3
CD4 Deficiency Causes Poliomyelitis and Axonal Blebbing in Murine Coronavirus-Induced Neuroinflammation. 61
32404525 2020
4
Pulmonary Cryptococcus infections as a manifestation of idiopathic CD4 lymphocytopenia: case report and literature review. 61
31623573 2019
5
Chronic Hepatitis E is associated with cholangitis. 61
31102493 2019
6
CD4 and Its Relevance to Advanced Glycation End Products in Tuberculosis Patients with Co-morbidity Diabetes. 61
30559871 2018
7
An unusual complication after interventional cardiology reveals and infrequent condition: Idiopathic CD4 deficiency. 61
26768667 2016
8
Immune Abnormalities in Fontan Protein-Losing Enteropathy: A Case-Control Study. 61
26009017 2015
9
CD4+ T cells contain early extrapulmonary tuberculosis (TB) dissemination and rapid TB progression and sustain multieffector functions of CD8+ T and CD3- lymphocytes: mechanisms of CD4+ T cell immunity. 61
24489088 2014
10
Th17 cells confer long-term adaptive immunity to oral mucosal Candida albicans infections. 61
23250275 2013
11
Increased levels of circulating cytokines with HIV-related immunosuppression. 61
21962239 2012
12
ADAMTS13 activity levels in patients with human immunodeficiency virus-associated thrombotic microangiopathy and profound CD4 deficiency. 61
19156755 2009
13
IL-15 as a mediator of CD4+ help for CD8+ T cell longevity and avoidance of TRAIL-mediated apoptosis. 61
18362335 2008
14
Enhancement of CD8+ T cell immunity in the lung by CpG oligodeoxynucleotides increases protective efficacy of a modified vaccinia Ankara vaccine against lethal poxvirus infection even in a CD4-deficient host. 61
17056564 2006
15
Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. 61
16836617 2006
16
CD4+ T cells contribute to postischemic liver injury in mice by interacting with sinusoidal endothelium and platelets. 61
16440342 2006
17
Airway hyperresponsiveness in the absence of CD4+ T cells after primary but not secondary challenge. 61
15845865 2005
18
Palpable arciform migratory erythema in an HIV patient, a CD8+ pseudolymphoma. 61
15059223 2004
19
A review of 35 cases of asymmetric crying facies. 61
15287415 2004
20
Radical surgery does not recover immunodeficiency associated with gastric cancer. 61
12866567 2003
21
[Structured therapeutic interruption in patients infected with HIV-1 experiencing a block in their antiretroviral treatment: preliminary results]. 61
11642019 2001
22
[Primary CD4 deficiency]. 61
11212656 2000
23
Nackt (nkt), a new hair loss mutation of the mouse with associated CD4 deficiency. 61
10199917 1999
24
Undefined CD4 lymphocytopenia without clinical complications. A report of two cases. 61
9573760 1998
25
CD4 deficiency in myelodysplastic syndrome with monosomy 7. 61
8775221 1996
26
The role of CD4+ and CD8+ T cells in the protective inflammatory response to a pulmonary cryptococcal infection. 61
7904293 1994
27
Reduced ecto-5'-nucleotidase activity and enhanced OKT10 and HLA-DR expression on CD8 (T suppressor/cytotoxic) lymphocytes in the acquired immune deficiency syndrome: evidence of CD8 cell immaturity. 61
2991373 1985

Variations for Immunodeficiency 79

ClinVar genetic disease variations for Immunodeficiency 79:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD4 NC_000012.12:g.6818420G>A SNV Pathogenic 1048526 GRCh37:
GRCh38:
2 CD4 NM_000616.5:c.1A>G SNV Pathogenic 1048527 GRCh37:
GRCh38:

Expression for Immunodeficiency 79

Search GEO for disease gene expression data for Immunodeficiency 79.

Pathways for Immunodeficiency 79

GO Terms for Immunodeficiency 79

Sources for Immunodeficiency 79

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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