Immunodeficiency, and Hepatitis

Diseases related with Immunodeficiency and Hepatitis

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

Top matches:

HCV, which is principally transmitted by blood, infects about 3% of the world's population. HCV infection causes acute hepatitis, which is self-resolving in 20 to 50% of cases but does not confer permanent immunity. In 50 to 80% of cases, HCV infection becomes chronic and results in chronic hepatitis, cirrhosis, and hepatocellular carcinoma. As a result, HCV infection is a leading killer worldwide and the most common cause of liver failure in the U.S. HCV is opportunistic in individuals infected with human immunodeficiency virus (HIV; see {609423}), approximately 25% of whom are coinfected with HCV. HCV infection is also associated with cryoglobulinemia (see {123550}), a B-lymphocyte proliferative disorder (Pawlotsky, 2004; Chisari (2005); Pileri et al., 1998).

HEPATITIS C VIRUS, SUSCEPTIBILITY TO Is also known as hcv, susceptibility to

Related symptoms:

  • Immunodeficiency
  • Carcinoma
  • Cirrhosis
  • Hepatic failure
  • Hepatitis


SOURCES: OMIM MENDELIAN

More info about HEPATITIS C VIRUS, SUSCEPTIBILITY TO

Immunodeficiency-56 is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013).

COMBINED IMMUNODEFICIENCY DUE TO IL21R DEFICIENCY Is also known as il21r immunodeficiency

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Abnormality of the liver


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO IL21R 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

Other less relevant matches:

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE Is also known as il21-related infantile ibd|il21 deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE

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

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 Is also known as bls|major histocompatibility complex class ii expression deficiency|bare lymphocyte syndrome type 2|bls, type ii|hla class 2-negative severe combined immunodeficiency|bare lymphocyte syndrome|scid, hla class ii-negative|hla class 2-negative scid|mhc class

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Malabsorption
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA ), and general dysregulation of the immune pathway, such as increased levels of IL18 (OMIM ). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Is also known as xiap deficiency

Related symptoms:

  • Anemia
  • Fever
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

Medium match HEMOPHILIA B; HEMB

Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (OMIM ), which results from deficiency of coagulation factor VIII (F8 ). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993).Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known.

HEMOPHILIA B; HEMB Is also known as christmas disease|factor ix deficiency|f9 deficiency|plasma thromboplastin component deficiency

Related symptoms:

  • Immunodeficiency
  • Leukemia
  • Hematuria
  • Abnormal bleeding
  • Gastrointestinal hemorrhage


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOPHILIA B; HEMB

Top 5 symptoms//phenotypes associated to Immunodeficiency and Hepatitis

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Chronic diarrhea Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Colitis Respiratory tract infection Recurrent respiratory infections Fever Erythema Hepatic failure Cirrhosis Pneumonia

Rare Symptoms - Less than 30% cases

Recurrent otitis media Recurrent bacterial infections Anemia Growth delay Combined immunodeficiency Neutropenia Abnormality of the liver Chronic hepatitis Villous atrophy Inflammation of the large intestine Cholangitis Hematuria Agammaglobulinemia Irritability Loss of eyelashes Lymphoma Hepatosplenomegaly Pancytopenia Splenomegaly Decreased serum complement factor I Hypertriglyceridemia IgA deposition in the glomerulus Discoid lupus rash Macroscopic hematuria Membranoproliferative glomerulonephritis Facial erythema Microscopic hematuria Recurrent skin infections Keratitis Proteinuria Autoimmunity Glomerulonephritis Skin rash Systemic lupus erythematosus Meningitis Nephropathy Glomerulopathy Dysgammaglobulinemia Acne Prolonged bleeding time Delayed onset bleeding Prolonged bleeding after dental extraction Prolonged whole-blood clotting time Reduced factor IX activity Prolonged bleeding after surgery Intramuscular hematoma Persistent bleeding after trauma Menometrorrhagia Spontaneous, recurrent epistaxis Poor wound healing Joint hemorrhage Prolonged prothrombin time Prolonged partial thromboplastin time Abnormality of the coagulation cascade Increased serum ferritin Intracranial hemorrhage Osteoarthritis Epistaxis Gastrointestinal hemorrhage Abnormal bleeding Leukemia Hypofibrinogenemia Renal insufficiency Erythema nodosum Folliculitis Hemophagocytosis Immune dysregulation Aplastic anemia Abnormality of the gastrointestinal tract Arthralgia Recurrent upper respiratory tract infections Cataract Abnormal facial shape Trichorrhexis nodosa Woolly hair Microcytic anemia Brittle hair Wide nose Small for gestational age Sparse hair Prominent forehead Intrauterine growth retardation Wide nasal bridge Hepatomegaly Depressed nasal bridge Hypertelorism Bloody diarrhea Severe combined immunodeficiency Tachypnea Lymphopenia Tachycardia Respiratory distress Chronic hepatitis due to cryptosporidium infection Recurrent infection of the gastrointestinal tract Recurrent sinusitis Bronchiectasis Acute hepatitis Cryoglobulinemia Hepatocellular carcinoma Hypochromic microcytic anemia Intractable diarrhea Pain Recurrent urinary tract infections Recurrent protozoan infections Chronic lymphocytic meningitis Viral hepatitis Cutaneous anergy Panhypogammaglobulinemia Protracted diarrhea Recurrent fungal infections Recurrent viral infections Chronic mucocutaneous candidiasis Recurrent lower respiratory tract infections Encephalitis Carcinoma Malabsorption Pili canaliculi Protein-losing enteropathy Chronic sinusitis Abnormal intestine morphology Recurrent pneumonia Sinusitis Sepsis Recurrent aphthous stomatitis Severe failure to thrive Malnutrition Clubbing Decreased serum iron Uncombable hair Cephalohematoma


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