Immunodeficiency, and Otitis media

Diseases related with Immunodeficiency and Otitis media

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

Top matches:

Immunodeficiency-20 is a rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Patient NK cells are defective in spontaneous cell cytotoxicity, but retain antibody-dependent cellular cytotoxicity. Patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV) (summary by Grier et al., 2012).

AUTOSOMAL RECESSIVE PRIMARY IMMUNODEFICIENCY WITH DEFECTIVE SPONTANEOUS NATURAL KILLER CELL CYTOTOXICITY Is also known as autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity|cd16 deficiency

Related symptoms:

  • Immunodeficiency
  • Otitis media
  • Recurrent otitis media
  • Sinusitis
  • Recurrent sinusitis


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY IMMUNODEFICIENCY WITH DEFECTIVE SPONTANEOUS NATURAL KILLER CELL CYTOTOXICITY

Immunodeficiency-51 is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (OMIM ), IL17F (OMIM ), IL17A/F, and IL17E (IL25 ) (summary by Levy et al., 2016).

IMMUNODEFICIENCY 51; IMD51 Is also known as candf5, formerly|candidiasis, familial, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 51; IMD51

Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004).

IMMUNODEFICIENCY 18; IMD18 Is also known as cd3-epsilon deficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Otitis media


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 18; IMD18

Other less relevant matches:

Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway DefectsSee also LCAPD2 (OMIM ), caused by variation in the MASP2 gene (OMIM ) on chromosome 1p36, and LCAPD3 (OMIM ), caused by variation in the FCN3 gene (OMIM ) on chromosome 1p36.

MANNOSE-BINDING LECTIN DEFICIENCY; MBLD Is also known as mbl deficiency|mbl2 deficiency|lcapd1|mannose-binding protein deficiency|mbp deficiency|lectin complement activation pathway, defect in, 1

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: MESH OMIM MENDELIAN

More info about MANNOSE-BINDING LECTIN DEFICIENCY; MBLD

Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO GAMMA CHAIN DEFICIENCY Is also known as immunodeficiency 6|t-b+ severe combined immunodeficiency, x-linked|imd6|xcid|t-b+ scid due to gamma chain deficiency|scidx1

Related symptoms:

  • Immunodeficiency
  • Pneumonia
  • Otitis media
  • Sinusitis
  • Combined immunodeficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO GAMMA CHAIN DEFICIENCY

Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.

COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY Is also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive|cd3-gamma deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY

TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.

TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY Is also known as tcr-alpha/beta deficiency|tcr-alpha-beta+ t-cell deficiency|imd7|immunodeficiency 7

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY

Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011).

IMMUNODEFICIENCY 19; IMD19 Is also known as scid, t cell-negative, b cell-positive, nk cell-positive|cd3-delta deficiency|severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive

Related symptoms:

  • Failure to thrive
  • Fever
  • Respiratory distress
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 19; IMD19

Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4 Is also known as agammaglobulinemia, autosomal recessive, due to blnk defect

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Pneumonia
  • Neutropenia
  • Sepsis


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4

Top 5 symptoms//phenotypes associated to Immunodeficiency and Otitis media

Symptoms // Phenotype % cases
Recurrent otitis media Common - Between 50% and 80% cases
Pneumonia Common - Between 50% and 80% cases
Sinusitis Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphopenia Diarrhea Combined immunodeficiency Failure to thrive Respiratory tract infection Recurrent sinusitis Severe combined immunodeficiency

Rare Symptoms - Less than 30% cases

Bronchitis Bronchiolitis Autoimmune hemolytic anemia Abnormal intestine morphology Hemolytic anemia Autoimmunity Anemia Decreased proportion of CD8-positive T cells Hepatitis Chronic diarrhea Sepsis Recurrent bacterial infections Bronchiolitis obliterans Neoplasm Recurrent bronchitis Recurrent skin infections Inflammatory abnormality of the skin Recurrent gastroenteritis Psoriasiform dermatitis Bronchiolitis obliterans organizing pneumonia Squamous cell carcinoma Vitiligo Chronic sinusitis Immune dysregulation Recurrent pneumonia Alopecia areata Neutropenia Fever Opportunistic infection Agammaglobulinemia Respiratory distress Hodgkin lymphoma Tachycardia Hepatic failure Papilloma Tachypnea Carcinoma Lymphoma Lymphadenopathy Decreased proportion of CD4-positive T cells Hepatosplenomegaly Meningitis Pustule Chronic mucocutaneous candidiasis Folliculitis Recurrent Staphylococcus aureus infections Chronic furunculosis Cutaneous abscess Defective T cell proliferation Decreased proportion of CD3-positive T cells Respiratory failure IgA deficiency Alopecia Recurrent Klebsiella infections Susceptibility to herpesvirus Recurrent meningococcal disease Disseminated cryptosporidium infection IgG deficiency Abnormality of humoral immunity Malabsorption Eczema Inflammation of the large intestine Decrease in T cell count Protein-losing enteropathy


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