Immunodeficiency, and Lymphadenopathy

Diseases related with Immunodeficiency and Lymphadenopathy

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Lymphadenopathy that can help you solving undiagnosed cases.

Top matches:

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

OKT4 EPITOPE DEFICIENCY Is also known as t4 epitope deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy
  • Systemic lupus erythematosus
  • Abnormality of the thyroid gland
  • Graves disease


SOURCES: OMIM MENDELIAN

More info about OKT4 EPITOPE DEFICIENCY

Other less relevant matches:

Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).

AUTOSOMAL DOMINANT MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR1 DEFICIENCY Is also known as autosomal dominant msmd due to partial interferon gamma receptor 1 deficiency|immunodeficiency 27b, mycobacteriosis, autosomal dominant|autosomal dominant msmd due to partial ifngammar1 deficiency|autosomal dominant mendelian susceptibility to mycobacteri

Related symptoms:

  • Pain
  • Immunodeficiency
  • Pneumonia
  • Osteomyelitis
  • Hip pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR1 DEFICIENCY

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE ISG15 DEFICIENCY Is also known as msmd due to complete isg15 deficiency|immunodeficiency 38, mycobacteriosis, autosomal recessive|isg15 deficiency, autosomal recessive

Related symptoms:

  • Seizures
  • Immunodeficiency
  • Lymphadenopathy
  • Cerebral calcification
  • Basal ganglia calcification


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE ISG15 DEFICIENCY

Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections.For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2; HIGM2 Is also known as hyper-igm syndrome 2

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy
  • Recurrent bacterial infections
  • IgA deficiency
  • IgG deficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2; HIGM2

Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.

SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY Is also known as tyrosine kinase 2 deficiency|hies with atypical mycobacteriosis, autosomal recessive|autosomal recessive hyper-ige syndrome due to tyk2 deficiency|hyper-ige syndrome with atypical mycobacteriosis, autosomal recessive|tyk2 deficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Lymphadenopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY

Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 5; HIGM5 Is also known as hyper-igm syndrome 5

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy
  • Recurrent bacterial infections
  • IgA deficiency
  • IgG deficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 5; HIGM5

Activated PI3K-delta syndrome is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.

ACTIVATED PI3K-DELTA SYNDROME Is also known as activated pi3k-delta syndrome|senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation|apds|p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency|pasli

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections
  • Respiratory tract infection


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTIVATED PI3K-DELTA SYNDROME

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS Is also known as caspase 8 deficiency syndrome|autoimmune lymphoproliferative syndrome, type iib|alps2b|ceds|alps with recurrent viral infections

Related symptoms:

  • Short stature
  • Failure to thrive
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS

Top 5 symptoms//phenotypes associated to Immunodeficiency and Lymphadenopathy

Symptoms // Phenotype % cases
Recurrent mycobacterial infections Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
Eczema Rare - less than 30% cases
Asthma Rare - less than 30% cases

Other less frequent symptoms

Patients with Immunodeficiency and Lymphadenopathy. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Recurrent respiratory infections Recurrent upper and lower respiratory tract infections Impaired Ig class switch recombination IgG deficiency IgA deficiency Recurrent bacterial infections Lymphadenitis Splenomegaly Recurrent sinopulmonary infections Respiratory tract infection Increased IgE level Decreased T cell activation Chronic diarrhea Failure to thrive Short stature Recurrent ear infections Recurrent fungal infections Chronic mucocutaneous candidiasis Cellulitis Bronchiectasis Decreased antibody level in blood Lymphoma Increased IgM level Epididymitis Recurrent viral infections Opportunistic infection Recurrent skin infections Osteomyelitis Fever Abnormality of immune system physiology Systemic lupus erythematosus Abnormality of the thyroid gland Graves disease Abnormal T cell morphology Pain Hip pain Meningitis Generalized lymphadenopathy Salmonella osteomyelitis Seizures Cerebral calcification Basal ganglia calcification Recurrent infection of the gastrointestinal tract Recurrent urinary tract infections Defective B cell activation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Polyhydramnios, related diseases and genetic alterations Motor delay and Micropenis, related diseases and genetic alterations Brachydactyly and Small hand, related diseases and genetic alterations