Immunodeficiency, and Sepsis

Diseases related with Immunodeficiency and Sepsis

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

Top matches:

Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.

FAMILIAL ISOLATED CONGENITAL ASPLENIA Is also known as splenic hypoplasia|asplenia, familial|hyposplenia, isolated congenital

Related symptoms:

  • Fever
  • Vomiting
  • Immunodeficiency
  • Abnormality of metabolism/homeostasis
  • Sepsis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL ISOLATED CONGENITAL ASPLENIA

Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.

IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY Is also known as irak4d|irak4 deficiency

Related symptoms:

  • Neoplasm
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Neutropenia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY Is also known as combined immunodeficiency with expansion of gamma delta t cells|cid due to partial rag1 deficiency|cid with expansion of gamma delta t cells

Related symptoms:

  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Autoimmunity
  • Sepsis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY

Other less relevant matches:

IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

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 due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY Is also known as scid due to ikk2 deficiency

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Pneumonia
  • Respiratory tract infection


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY

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

COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY Is also known as cid due to tfrc deficiency|tfrc-related combined immunodeficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY

Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.

LEUKOCYTE ADHESION DEFICIENCY TYPE III Is also known as lad-1 variant|lad1v|leukocyte adhesion deficiency 1 variant|lad-iii|leukocyte adhesion deficiency-1 variant|iadd|leukocyte adhesion deficiency 3|integrin activation deficiency disease

Related symptoms:

  • Pain
  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY TYPE III

IMMUNODEFICIENCY 43; IMD43 Is also known as beta-2-microglobulin deficiency|b2m deficiency|hypoproteinemia, hypercatabolic

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Diabetes mellitus
  • Proteinuria
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY 43; IMD43

Top 5 symptoms//phenotypes associated to Immunodeficiency and Sepsis

Symptoms // Phenotype % cases
Pneumonia Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Meningitis Uncommon - Between 30% and 50% cases
Recurrent bacterial infections Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Neutropenia Agammaglobulinemia Failure to thrive Chronic diarrhea

Rare Symptoms - Less than 30% cases

Autoimmune hemolytic anemia Severe combined immunodeficiency Respiratory tract infection Subcutaneous nodule Bronchiectasis IgA deficiency IgG deficiency Splenomegaly Recurrent skin infections Osteomyelitis Neoplasm Decreased antibody level in blood Cellulitis Recurrent sinopulmonary infections Intermittent thrombocytopenia Conjunctivitis Chronic oral candidiasis Pain Thrombocytopenia Hepatomegaly Protein-losing enteropathy Chronic sinusitis Abnormal intestine morphology Osteopetrosis Hepatosplenomegaly Recurrent respiratory infections Radial bowing Hypoplasia of the ulna Hypoalbuminemia Inflammatory abnormality of the skin Proteinuria Diabetes mellitus Decreased platelet glycoprotein IIb-IIIa Abnormal bleeding Abnormality of the lymph nodes Extramedullary hematopoiesis Abnormal thrombocyte morphology Sinusitis Petechiae Leukocytosis Epistaxis Recurrent pneumonia Fever Recurrent otitis media Hemolytic anemia Abnormality of metabolism/homeostasis Thrombocytosis Abnormality of abdomen morphology Polysplenia Asplenia Heterotaxy Recurrent streptococcus pneumoniae infections Recurrent staphylococcal infections Autoimmunity Decrease in T cell count B lymphocytopenia Interstitial pneumonitis Autoimmune neutropenia Ectodermal dysplasia Hepatitis Increased IgM level Impaired memory B cell generation Recurrent mycobacterium avium complex infections Respiratory failure Otitis media Vomiting Recurrent Klebsiella infections Susceptibility to herpesvirus Recurrent meningococcal disease Disseminated cryptosporidium infection Cardiac arrest Combined immunodeficiency Hypoplasia of the thymus Hypoproteinemia


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